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Mendeliome v0.14017 GUCA1B Zornitza Stark Gene: guca1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14016 GUCA1B Zornitza Stark edited their review of gene: GUCA1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14016 FGFR3 Bryony Thompson edited their review of gene: FGFR3: Changed mode of pathogenicity: Other; Changed publications: 8630492, 32641982, 27139183, 24864036, 17033969, 20301331, 20301540, 20301650, 20301628; Changed phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14016 GUCA1B Zornitza Stark Tag founder tag was added to gene: GUCA1B.
Mendeliome v0.14016 GUCA1B Zornitza Stark reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14016 GUCY1A3 Zornitza Stark Gene: gucy1a3 has been classified as Green List (High Evidence).
Mendeliome v0.14016 GUCY1A3 Zornitza Stark Phenotypes for gene: GUCY1A3 were changed from to Moyamoya 6 with achalasia, MIM# 615750
Mendeliome v0.14015 GUCY1A3 Zornitza Stark Publications for gene: GUCY1A3 were set to
Mendeliome v0.14014 GUCY1A3 Zornitza Stark Mode of inheritance for gene: GUCY1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14013 GUCY1A3 Zornitza Stark reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256, 34381413, 33109895; Phenotypes: Moyamoya 6 with achalasia, MIM# 615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14013 GYG1 Zornitza Stark Gene: gyg1 has been classified as Green List (High Evidence).
Mendeliome v0.14013 GYG1 Zornitza Stark Phenotypes for gene: GYG1 were changed from to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507
Mendeliome v0.14012 GYG1 Zornitza Stark Publications for gene: GYG1 were set to
Mendeliome v0.14011 GYG1 Zornitza Stark Mode of inheritance for gene: GYG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14010 GYG1 Zornitza Stark reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32905144, 31791869, 29422440, 25272951, 20357282; Phenotypes: Polyglucosan body myopathy 2, MIM# 616199, Glycogen storage disease XV , MIM# 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14010 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Mendeliome v0.14010 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from to Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555
Mendeliome v0.14009 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Mendeliome v0.14008 GUCY2D Zornitza Stark Mode of inheritance for gene: GUCY2D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14007 GUCY2D Zornitza Stark reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314386, 35205358; Phenotypes: Cone-rod dystrophy 6, MIM# 601777, Leber congenital amaurosis 1, MIM# 204000, Night blindness, congenital stationary, type 1I, MIM# 618555; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14007 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Mendeliome v0.14007 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence).
Mendeliome v0.14007 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)
Mendeliome v0.14006 ARHGEF18 Elena Savva Phenotypes for gene: ARHGEF18 were changed from to Retinitis pigmentosa 78 MIM#617433
Mendeliome v0.14005 ARHGEF18 Elena Savva Publications for gene: ARHGEF18 were set to
Mendeliome v0.14005 ARHGEF18 Elena Savva Mode of inheritance for gene: ARHGEF18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14004 ARHGEF18 Elena Savva reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132693; Phenotypes: Retinitis pigmentosa 78 MIM#617433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14004 ARHGDIA Elena Savva Publications for gene: ARHGDIA were set to
Mendeliome v0.14004 ARHGDIA Elena Savva Phenotypes for gene: ARHGDIA were changed from to Nephrotic syndrome, type 8 MIM#615244
Mendeliome v0.14004 ARHGDIA Elena Savva Mode of inheritance for gene: ARHGDIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14003 ARHGDIA Elena Savva Gene: arhgdia has been classified as Green List (High Evidence).
Mendeliome v0.14003 ARHGDIA Elena Savva reviewed gene: ARHGDIA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23867502, 35060086; Phenotypes: Nephrotic syndrome, type 8 MIM#615244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14003 ARHGAP31 Elena Savva Gene: arhgap31 has been classified as Green List (High Evidence).
Mendeliome v0.14003 ARHGAP31 Elena Savva Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300
Mendeliome v0.14002 ARHGAP31 Elena Savva Publications for gene: ARHGAP31 were set to
Mendeliome v0.14001 ARHGAP31 Elena Savva Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14000 ARHGAP31 Elena Savva reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33655927, 29924900; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14000 ANXA5 Elena Savva Gene: anxa5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14000 ANXA5 Elena Savva Phenotypes for gene: ANXA5 were changed from to {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391
Mendeliome v0.13999 ANXA5 Elena Savva Publications for gene: ANXA5 were set to
Mendeliome v0.13999 ANXA5 Elena Savva Mode of inheritance for gene: ANXA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13998 ANXA5 Elena Savva Classified gene: ANXA5 as Amber List (moderate evidence)
Mendeliome v0.13998 ANXA5 Elena Savva Gene: anxa5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13997 AR Elena Savva Gene: ar has been classified as Green List (High Evidence).
Mendeliome v0.13997 GYPA Zornitza Stark Gene: gypa has been classified as Red List (Low Evidence).
Mendeliome v0.13997 GYPA Zornitza Stark Phenotypes for gene: GYPA were changed from to [Blood group, MNSs system] 111300
Mendeliome v0.13996 GYPA Zornitza Stark Mode of inheritance for gene: GYPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13995 GYPA Zornitza Stark Classified gene: GYPA as Red List (low evidence)
Mendeliome v0.13995 GYPA Zornitza Stark Gene: gypa has been classified as Red List (Low Evidence).
Mendeliome v0.13994 GYPA Zornitza Stark reviewed gene: GYPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, MNSs system] 111300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13994 GYPB Zornitza Stark Gene: gypb has been classified as Red List (Low Evidence).
Mendeliome v0.13994 GYPB Zornitza Stark Phenotypes for gene: GYPB were changed from to [Blood group, Ss] 111740
Mendeliome v0.13993 GYPB Zornitza Stark Mode of inheritance for gene: GYPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13992 GYPB Zornitza Stark Classified gene: GYPB as Red List (low evidence)
Mendeliome v0.13992 GYPB Zornitza Stark Gene: gypb has been classified as Red List (Low Evidence).
Mendeliome v0.13991 GYPB Zornitza Stark reviewed gene: GYPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Ss] 111740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 HAAO Zornitza Stark reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSE Krithika Murali reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 23704329, 25703627, 32130795; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSG4 Krithika Murali reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12705872, 16439973, 16543896, 16575393, 17392831; Phenotypes: Hypotrichosis 6 - MIM#607903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DSPP Krithika Murali reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594, Dentin dysplasia, type II - MIM#125420, Dentinogenesis imperfecta, Shields type II - MIM#125490, Dentinogenesis imperfecta, Shields type III - MIM#125500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 DUOX2 Krithika Murali reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6 - MIM#607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 DUOXA2 Krithika Murali reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5 - MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13991 RP2 Belinda Chong reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697692, 10053026, 10942419, 11462235, 12417528, 8225316, 26143542; Phenotypes: Retinitis pigmentosa 2 MIM#312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.13991 RP9 Belinda Chong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: None; Publications: 16799052, 16671097; Phenotypes: ?Retinitis pigmentosa 9 MIM#180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13991 LZTS1 Alison Yeung Marked gene: LZTS1 as ready
Mendeliome v0.13991 LZTS1 Alison Yeung Gene: lzts1 has been classified as Red List (Low Evidence).
Mendeliome v0.13991 LZTS1 Alison Yeung Phenotypes for gene: LZTS1 were changed from to Esophageal squamous cell carcinoma, somatic, MIM# 133239
Mendeliome v0.13990 LZTS1 Alison Yeung Classified gene: LZTS1 as Red List (low evidence)
Mendeliome v0.13990 LZTS1 Alison Yeung Gene: lzts1 has been classified as Red List (Low Evidence).
Mendeliome v0.13989 LZTS1 Alison Yeung reviewed gene: LZTS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Esophageal squamous cell carcinoma, somatic, MIM# 133239; Mode of inheritance: Unknown
Mendeliome v0.13989 LYZ Alison Yeung Gene: lyz has been classified as Green List (High Evidence).
Mendeliome v0.13989 LYZ Alison Yeung Phenotypes for gene: LYZ were changed from to Amyloidosis, renal, MIM# 105200
Mendeliome v0.13988 LYZ Alison Yeung Publications for gene: LYZ were set to
Mendeliome v0.13987 LYZ Alison Yeung Mode of inheritance for gene: LYZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13986 LYST Alison Yeung Marked gene: LYST as ready
Mendeliome v0.13986 LYST Alison Yeung Gene: lyst has been classified as Green List (High Evidence).
Mendeliome v0.13986 LYST Alison Yeung Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500
Mendeliome v0.13985 LYST Alison Yeung Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13984 LYRM7 Alison Yeung Gene: lyrm7 has been classified as Green List (High Evidence).
Mendeliome v0.13984 LYRM7 Alison Yeung Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Mendeliome v0.13983 LYRM7 Alison Yeung Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13982 LYN Alison Yeung Added comment: Comment when marking as ready: No human disease association published. Mouse models suggest role in auto inflammatory pathways.
Mendeliome v0.13982 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Mendeliome v0.13982 LYN Alison Yeung Classified gene: LYN as Red List (low evidence)
Mendeliome v0.13982 LYN Alison Yeung Gene: lyn has been classified as Red List (Low Evidence).
Mendeliome v0.13981 LTC4S Alison Yeung Marked gene: LTC4S as ready
Mendeliome v0.13981 LTC4S Alison Yeung Gene: ltc4s has been classified as Red List (Low Evidence).
Mendeliome v0.13981 LTC4S Alison Yeung Phenotypes for gene: LTC4S were changed from to Leukotriene C4 synthase deficiency, MIM# 614037
Mendeliome v0.13980 LTC4S Alison Yeung Mode of inheritance for gene: LTC4S was changed from Unknown to Unknown
Mendeliome v0.13979 LTC4S Alison Yeung Classified gene: LTC4S as Red List (low evidence)
Mendeliome v0.13979 LTC4S Alison Yeung Gene: ltc4s has been classified as Red List (Low Evidence).
Mendeliome v0.13978 LTC4S Alison Yeung reviewed gene: LTC4S: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukotriene C4 synthase deficiency, MIM# 614037; Mode of inheritance: Other
Mendeliome v0.13978 LTA Alison Yeung Marked gene: LTA as ready
Mendeliome v0.13978 LTA Alison Yeung Added comment: Comment when marking as ready: Not associated with Mendelian disease
Mendeliome v0.13978 LTA Alison Yeung Gene: lta has been classified as Red List (Low Evidence).
Mendeliome v0.13978 LTA Alison Yeung Phenotypes for gene: LTA were changed from to Myocardial infarction, susceptibility to, MIM# 608446
Mendeliome v0.13977 LTA Alison Yeung Mode of inheritance for gene: LTA was changed from Other to Other
Mendeliome v0.13977 LTA Alison Yeung Mode of inheritance for gene: LTA was changed from Unknown to Other
Mendeliome v0.13976 LTA Alison Yeung Classified gene: LTA as Red List (low evidence)
Mendeliome v0.13976 LTA Alison Yeung Gene: lta has been classified as Red List (Low Evidence).
Mendeliome v0.13975 LTA Alison Yeung reviewed gene: LTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myocardial infarction, susceptibility to, MIM# 608446; Mode of inheritance: Other
Mendeliome v0.13975 LRP6 Alison Yeung Gene: lrp6 has been classified as Green List (High Evidence).
Mendeliome v0.13975 LRP6 Alison Yeung Phenotypes for gene: LRP6 were changed from to Tooth agenesis, selective, 7, MIM# 616724
Mendeliome v0.13974 LRP6 Alison Yeung Mode of inheritance for gene: LRP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13973 LRP5 Alison Yeung Gene: lrp5 has been classified as Green List (High Evidence).
Mendeliome v0.13973 LRP5 Alison Yeung Phenotypes for gene: LRP5 were changed from to Exudative vitreoretinopathy 4, MIM# 601813; Osteopetrosis, autosomal dominant 1, MIM# 607634; Osteoporosis-pseudoglioma syndrome, MIM# 259770; Osteosclerosis, MIM# 144750; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Mendeliome v0.13972 LRP5 Alison Yeung Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13971 LRP2 Alison Yeung Gene: lrp2 has been classified as Green List (High Evidence).
Mendeliome v0.13971 LRP2 Alison Yeung Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM# 222448
Mendeliome v0.13970 LRIG2 Alison Yeung Gene: lrig2 has been classified as Green List (High Evidence).
Mendeliome v0.13970 LRIG2 Alison Yeung Phenotypes for gene: LRIG2 were changed from to Urofacial syndrome 2, MIM# 615112
Mendeliome v0.13969 LRIG2 Alison Yeung Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509
Mendeliome v0.13969 LRIG2 Alison Yeung Publications for gene: LRIG2 were set to
Mendeliome v0.13968 LRIG2 Alison Yeung Mode of inheritance for gene: LRIG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13967 LRIG2 Alison Yeung reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2, MIM# 615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13967 FGFR3 Bryony Thompson Gene: fgfr3 has been classified as Green List (High Evidence).
Mendeliome v0.13967 FGFR3 Bryony Thompson Phenotypes for gene: FGFR3 were changed from to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833
Mendeliome v0.13966 FGFR3 Bryony Thompson Publications for gene: FGFR3 were set to
Mendeliome v0.13965 FGFR3 Bryony Thompson Mode of inheritance for gene: FGFR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13964 FGFR3 Bryony Thompson reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740388, 20301331, 20301540, 20301650, 20301628, 24864036, 17033969; Phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13964 DNAJB6 Ain Roesley Gene: dnajb6 has been classified as Green List (High Evidence).
Mendeliome v0.13964 DNAJB6 Ain Roesley Phenotypes for gene: DNAJB6 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
Mendeliome v0.13963 DNAJB6 Ain Roesley Publications for gene: DNAJB6 were set to
Mendeliome v0.13963 DNAJB6 Ain Roesley Mode of inheritance for gene: DNAJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13962 DNAJB6 Ain Roesley reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13962 DNAH1 Ain Roesley Phenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 MIM#617576 to primary ciliary dyskinesia,37 MIM#617577; Spermatogenic failure 18 MIM#617576
Mendeliome v0.13961 DNAH1 Ain Roesley Gene: dnah1 has been classified as Green List (High Evidence).
Mendeliome v0.13961 DNAH1 Ain Roesley Phenotypes for gene: DNAH1 were changed from to Spermatogenic failure 18 MIM#617576
Mendeliome v0.13960 DNAH1 Ain Roesley Publications for gene: DNAH1 were set to
Mendeliome v0.13959 DNAH1 Ain Roesley Mode of inheritance for gene: DNAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13958 DNAH1 Ain Roesley reviewed gene: DNAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31507630, 31765523, 25927852, 24360805, 33577779; Phenotypes: primary ciliary dyskinesia,37 MIM#617577, Spermatogenic failure 18 MIM#617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13958 DNA2 Ain Roesley Gene: dna2 has been classified as Green List (High Evidence).
Mendeliome v0.13958 DNA2 Ain Roesley Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Mendeliome v0.13957 DNA2 Ain Roesley Publications for gene: DNA2 were set to
Mendeliome v0.13957 DNA2 Ain Roesley Mode of inheritance for gene: DNA2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13956 DNA2 Ain Roesley reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292, 23352259, 25635128, 28554558; Phenotypes: Seckel syndrome 8, MIM#615807, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13956 DMD Ain Roesley Tag SV/CNV tag was added to gene: DMD.
Mendeliome v0.13956 DMP1 Ain Roesley Gene: dmp1 has been classified as Green List (High Evidence).
Mendeliome v0.13956 DMP1 Ain Roesley Publications for gene: DMP1 were set to
Mendeliome v0.13956 DMP1 Ain Roesley Phenotypes for gene: DMP1 were changed from to Hypophosphatemic rickets MIM#241520
Mendeliome v0.13956 DMP1 Ain Roesley Mode of inheritance for gene: DMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13955 DMP1 Ain Roesley reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920683, 17033625, 17033621; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13955 AQP3 Elena Savva Phenotypes for gene: AQP3 were changed from to [Blood group GIL] MIM#607457
Mendeliome v0.13954 AQP3 Elena Savva Gene: aqp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13954 DMD Ain Roesley Gene: dmd has been classified as Green List (High Evidence).
Mendeliome v0.13954 DMD Ain Roesley Phenotypes for gene: DMD were changed from to Becker muscular dystrophy MIM@300376 XLR; Cardiomyopathy, dilated, 3B MIM#302045 XL; Duchenne muscular dystrophy MIM#310200
Mendeliome v0.13953 DMD Ain Roesley Publications for gene: DMD were set to
Mendeliome v0.13953 DMD Ain Roesley Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13952 DMD Ain Roesley reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM@300376 XLR, Cardiomyopathy, dilated, 3B MIM#302045 XL, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.13952 DLX3 Ain Roesley Gene: dlx3 has been classified as Green List (High Evidence).
Mendeliome v0.13952 DLX3 Ain Roesley Phenotypes for gene: DLX3 were changed from to Amelogenesis imperfecta, type IV, MIM# 104510; Trichodontoosseous syndrome, MIM# 190320
Mendeliome v0.13952 DLX3 Ain Roesley Publications for gene: DLX3 were set to
Mendeliome v0.13952 DLX3 Ain Roesley Mode of inheritance for gene: DLX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13951 DLX3 Ain Roesley reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467018, 15666299, 18203197; Phenotypes: Amelogenesis imperfecta, type IV, MIM# 104510, Trichodontoosseous syndrome, MIM# 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13951 DLAT Ain Roesley Marked gene: DLAT as ready
Mendeliome v0.13951 DLAT Ain Roesley Gene: dlat has been classified as Green List (High Evidence).
Mendeliome v0.13951 DLAT Ain Roesley Publications for gene: DLAT were set to
Mendeliome v0.13950 DLAT Ain Roesley Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348
Mendeliome v0.13950 DLAT Ain Roesley Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13949 DLAT Ain Roesley reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Pyruvate dehydrogenase E2 deficiency MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13949 SLC22A12 Manny Jacobs reviewed gene: SLC22A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 14655203, 34412930, 34756726, 34829836, 26821810; Phenotypes: Hypouricemia, renal, MIM# 220150, MONDO:0020728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13949 DISC1 Ain Roesley Gene: disc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13949 DISC1 Ain Roesley Phenotypes for gene: DISC1 were changed from to {Schizophrenia 9, susceptibility to} MIM#604906
Mendeliome v0.13949 DISC1 Ain Roesley Publications for gene: DISC1 were set to
Mendeliome v0.13949 DISC1 Ain Roesley Classified gene: DISC1 as Red List (low evidence)
Mendeliome v0.13949 DISC1 Ain Roesley Gene: disc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13948 DISC1 Ain Roesley reviewed gene: DISC1: Rating: RED; Mode of pathogenicity: None; Publications: 18945897; Phenotypes: {Schizophrenia 9, susceptibility to} MIM#604906; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13948 LPL Alison Yeung Gene: lpl has been classified as Green List (High Evidence).
Mendeliome v0.13948 LPL Alison Yeung Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600
Mendeliome v0.13947 LPL Alison Yeung Mode of inheritance for gene: LPL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13946 LPL Alison Yeung reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250, Lipoprotein lipase deficiency, MIM# 238600; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13946 DHTKD1 Ain Roesley Marked gene: DHTKD1 as ready
Mendeliome v0.13946 DHTKD1 Ain Roesley Added comment: Comment when marking as ready: green for AR, amber for AD
Mendeliome v0.13946 DHTKD1 Ain Roesley Gene: dhtkd1 has been classified as Green List (High Evidence).
Mendeliome v0.13946 DHTKD1 Ain Roesley Publications for gene: DHTKD1 were set to
Mendeliome v0.13945 DHTKD1 Ain Roesley Phenotypes for gene: DHTKD1 were changed from to Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750, AR; Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025
Mendeliome v0.13944 DHTKD1 Ain Roesley Mode of inheritance for gene: DHTKD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13943 LPAR6 Alison Yeung Gene: lpar6 has been classified as Green List (High Evidence).
Mendeliome v0.13943 LPAR6 Alison Yeung Phenotypes for gene: LPAR6 were changed from to Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239
Mendeliome v0.13942 LPAR6 Alison Yeung Mode of inheritance for gene: LPAR6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13941 LPAR6 Alison Yeung reviewed gene: LPAR6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13941 DHH Ain Roesley Gene: dhh has been classified as Green List (High Evidence).
Mendeliome v0.13941 DHH Ain Roesley Phenotypes for gene: DHH were changed from 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 to 46XY gonadal dysgenesis with minifascicular neuropathy MIM#607080; 46XY sex reversal 7 MIM#233420
Mendeliome v0.13940 LOXL1 Alison Yeung Gene: loxl1 has been classified as Red List (Low Evidence).
Mendeliome v0.13940 LOXL1 Alison Yeung Mode of inheritance for gene: LOXL1 was changed from Unknown to Other
Mendeliome v0.13939 LOXL1 Alison Yeung Phenotypes for gene: LOXL1 were changed from to Exfoliation syndrome, susceptibility to, MIM#177650
Mendeliome v0.13938 LOXL1 Alison Yeung Classified gene: LOXL1 as Red List (low evidence)
Mendeliome v0.13938 LOXL1 Alison Yeung Gene: loxl1 has been classified as Red List (Low Evidence).
Mendeliome v0.13937 LOXL1 Alison Yeung reviewed gene: LOXL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exfoliation syndrome, susceptibility to, MIM#177650; Mode of inheritance: Other
Mendeliome v0.13937 LMF1 Alison Yeung Gene: lmf1 has been classified as Green List (High Evidence).
Mendeliome v0.13937 LMF1 Alison Yeung Phenotypes for gene: LMF1 were changed from to Lipase deficiency, combined, MIM# 246650
Mendeliome v0.13936 LMF1 Alison Yeung Mode of inheritance for gene: LMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13935 LMF1 Alison Yeung reviewed gene: LMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipase deficiency, combined, MIM# 246650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13935 LMBRD1 Alison Yeung Gene: lmbrd1 has been classified as Green List (High Evidence).
Mendeliome v0.13935 LMBRD1 Alison Yeung Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380
Mendeliome v0.13934 LMBRD1 Alison Yeung Publications for gene: LMBRD1 were set to
Mendeliome v0.13933 LMBRD1 Alison Yeung Mode of inheritance for gene: LMBRD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13932 LMBR1 Alison Yeung Gene: lmbr1 has been classified as Green List (High Evidence).
Mendeliome v0.13932 LMBR1 Alison Yeung Phenotypes for gene: LMBR1 were changed from to Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740
Mendeliome v0.13931 LMBR1 Alison Yeung Mode of inheritance for gene: LMBR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13930 LMBR1 Alison Yeung reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Laurin-Sandrow syndrome, MIM# 135750, Polydactyly, preaxial type II 174500, Triphalangeal thumb, type I, MIM# 174500, Syndactyly, type IV, MIM# 186200, Acheiropody, MIM# 200500, Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500, Hypoplastic or aplastic tibia with polydactyly, MIM# 188740; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13930 SLC17A3 Samantha Ayres reviewed gene: SLC17A3: Rating: RED; Mode of pathogenicity: None; Publications: 34290818, 20810651; Phenotypes: [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13930 SLC22A5 Manny Jacobs reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 10072434, 10051646, 10425211, 10480371, 10679939, 9837751, 23379544, 31399326; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13930 CYP27B1 Ain Roesley Gene: cyp27b1 has been classified as Green List (High Evidence).
Mendeliome v0.13930 CYP27B1 Ain Roesley Phenotypes for gene: CYP27B1 were changed from to Vitamin D-dependent rickets, type I MIM#264700
Mendeliome v0.13929 CYP27B1 Ain Roesley Publications for gene: CYP27B1 were set to
Mendeliome v0.13929 CYP27B1 Ain Roesley Mode of inheritance for gene: CYP27B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13928 CYP27B1 Ain Roesley reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13928 CYP51A1 Ain Roesley Gene: cyp51a1 has been classified as Green List (High Evidence).
Mendeliome v0.13928 CYP51A1 Ain Roesley Phenotypes for gene: CYP51A1 were changed from to congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO#0033853
Mendeliome v0.13927 CYP51A1 Ain Roesley Publications for gene: CYP51A1 were set to
Mendeliome v0.13926 CYP4V2 Ain Roesley Gene: cyp4v2 has been classified as Green List (High Evidence).
Mendeliome v0.13926 CYP4V2 Ain Roesley Phenotypes for gene: CYP4V2 were changed from to Bietti crystalline corneoretinal dystrophy, MIM# 210370
Mendeliome v0.13925 CYP4V2 Ain Roesley Publications for gene: CYP4V2 were set to
Mendeliome v0.13925 CYP4V2 Ain Roesley Mode of inheritance for gene: CYP4V2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13924 CYP4V2 Ain Roesley reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042513, 22497028; Phenotypes: Bietti crystalline corneoretinal dystrophy, MIM# 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13924 CYP2R1 Ain Roesley Gene: cyp2r1 has been classified as Green List (High Evidence).
Mendeliome v0.13924 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to 15128933; 28548312
Mendeliome v0.13923 CYP2R1 Ain Roesley Phenotypes for gene: CYP2R1 were changed from to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Mendeliome v0.13923 CYP2R1 Ain Roesley Publications for gene: CYP2R1 were set to
Mendeliome v0.13923 CYP2R1 Ain Roesley Mode of inheritance for gene: CYP2R1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13922 CYP2R1 Ain Roesley reviewed gene: CYP2R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15128933, 28548312; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13922 CYP2D6 Ain Roesley Gene: cyp2d6 has been classified as Red List (Low Evidence).
Mendeliome v0.13922 CYP2D6 Ain Roesley Phenotypes for gene: CYP2D6 were changed from to {Codeine sensitivity} MIM#608902; {Debrisoquine sensitivity} MIM#608902
Mendeliome v0.13921 CYP2D6 Ain Roesley Publications for gene: CYP2D6 were set to
Mendeliome v0.13921 CYP2D6 Ain Roesley Classified gene: CYP2D6 as Red List (low evidence)
Mendeliome v0.13921 CYP2D6 Ain Roesley Gene: cyp2d6 has been classified as Red List (Low Evidence).
Mendeliome v0.13920 CYP2D6 Ain Roesley reviewed gene: CYP2D6: Rating: RED; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: {Codeine sensitivity} MIM#608902, {Debrisoquine sensitivity} MIM#608902; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13920 CYP2C19 Ain Roesley Classified gene: CYP2C19 as Red List (low evidence)
Mendeliome v0.13920 CYP2C19 Ain Roesley Gene: cyp2c19 has been classified as Red List (Low Evidence).
Mendeliome v0.13919 CYP2C19 Ain Roesley edited their review of gene: CYP2C19: Changed rating: RED
Mendeliome v0.13919 CYP2C19 Ain Roesley changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)

(PMID:27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."; to: Pharmacogenomics gene

Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)

(PMID:27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Mendeliome v0.13919 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Mendeliome v0.13919 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Mendeliome v0.13918 DGUOK Zornitza Stark Publications for gene: DGUOK were set to
Mendeliome v0.13917 DGUOK Zornitza Stark Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13916 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687800, 12874104, 15887277, 23043144, 26874653; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13916 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Mendeliome v0.13916 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7, MIM# 615008
Mendeliome v0.13915 DGKE Zornitza Stark Publications for gene: DGKE were set to
Mendeliome v0.13914 DGKE Zornitza Stark Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13913 DGKE Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13913 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Mendeliome v0.13913 DES Zornitza Stark Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy
Mendeliome v0.13912 DES Zornitza Stark Publications for gene: DES were set to
Mendeliome v0.13911 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 20718792, 19879535, 20423733, 24200904, 22395865, 29212896, 23168288, 20829228, 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, Myopathy, myofibrillar, 1 , MIM#601419, Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13911 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Mendeliome v0.13911 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1, MIM#604364
Mendeliome v0.13910 DEPDC5 Zornitza Stark Publications for gene: DEPDC5 were set to
Mendeliome v0.13909 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13908 DEPDC5 Zornitza Stark reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13908 DECR1 Zornitza Stark Gene: decr1 has been classified as Red List (Low Evidence).
Mendeliome v0.13908 DECR1 Zornitza Stark Classified gene: DECR1 as Red List (low evidence)
Mendeliome v0.13908 DECR1 Zornitza Stark Gene: decr1 has been classified as Red List (Low Evidence).
Mendeliome v0.13907 DECR1 Zornitza Stark reviewed gene: DECR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13907 DDIT3 Zornitza Stark Marked gene: DDIT3 as ready
Mendeliome v0.13907 DDIT3 Zornitza Stark Gene: ddit3 has been classified as Red List (Low Evidence).
Mendeliome v0.13907 DDIT3 Zornitza Stark Classified gene: DDIT3 as Red List (low evidence)
Mendeliome v0.13907 DDIT3 Zornitza Stark Gene: ddit3 has been classified as Red List (Low Evidence).
Mendeliome v0.13906 DDIT3 Zornitza Stark reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13906 DDHD2 Zornitza Stark Gene: ddhd2 has been classified as Green List (High Evidence).
Mendeliome v0.13906 DDHD2 Zornitza Stark Phenotypes for gene: DDHD2 were changed from to Spastic paraplegia 54, autosomal recessive, MIM# 615033
Mendeliome v0.13905 DDHD2 Zornitza Stark Publications for gene: DDHD2 were set to
Mendeliome v0.13904 DDHD2 Zornitza Stark Mode of inheritance for gene: DDHD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13903 DDHD2 Zornitza Stark reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13903 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Mendeliome v0.13903 DDC Zornitza Stark Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Mendeliome v0.13902 DDC Zornitza Stark Publications for gene: DDC were set to
Mendeliome v0.13901 DDC Zornitza Stark Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13900 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13900 DDB2 Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence).
Mendeliome v0.13900 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Mendeliome v0.13899 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Mendeliome v0.13898 AQP3 Elena Savva Publications for gene: AQP3 were set to
Mendeliome v0.13897 AQP3 Elena Savva Mode of inheritance for gene: AQP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13897 AQP3 Elena Savva Classified gene: AQP3 as Amber List (moderate evidence)
Mendeliome v0.13897 AQP3 Elena Savva Gene: aqp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13896 AQP3 Elena Savva reviewed gene: AQP3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10737773, 12239222; Phenotypes: [Blood group GIL] MIM#607457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13896 DDB2 Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13895 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33276309, 32530099, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13895 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Mendeliome v0.13895 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Mendeliome v0.13895 DCTN1 Zornitza Stark Phenotypes for gene: DCTN1 were changed from to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605
Mendeliome v0.13894 DCTN1 Zornitza Stark Publications for gene: DCTN1 were set to
Mendeliome v0.13893 DCTN1 Zornitza Stark Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13892 DCTN1 Zornitza Stark edited their review of gene: DCTN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879, Perry syndrome, MIM# 168605
Mendeliome v0.13892 AQP5 Elena Savva Publications for gene: AQP5 were set to PMID: 35014096; 23830519
Mendeliome v0.13892 AQP5 Elena Savva Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type MIM#600231 to Palmoplantar keratoderma, Bothnian type MIM#600231
Mendeliome v0.13891 AQP5 Elena Savva Publications for gene: AQP5 were set to
Mendeliome v0.13892 AQP5 Elena Savva Phenotypes for gene: AQP5 were changed from to Palmoplantar keratoderma, Bothnian type MIM#600231
Mendeliome v0.13891 AQP5 Elena Savva Gene: aqp5 has been classified as Green List (High Evidence).
Mendeliome v0.13891 AQP5 Elena Savva Mode of inheritance for gene: AQP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13890 AQP5 Elena Savva reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35014096, 23830519; Phenotypes: Palmoplantar keratoderma, Bothnian type MIM#600231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13890 AR Elena Savva Phenotypes for gene: AR were changed from to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Mendeliome v0.13890 AR Elena Savva Publications for gene: AR were set to
Mendeliome v0.13889 AR Elena Savva Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13888 AR Elena Savva reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22334387; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300, Spinal and bulbar muscular atrophy of Kennedy MIM#313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13888 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Mendeliome v0.13888 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
Mendeliome v0.13887 DCLRE1C Zornitza Stark Publications for gene: DCLRE1C were set to
Mendeliome v0.13886 DCLRE1C Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13885 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13885 ARCN1 Elena Savva Gene: arcn1 has been classified as Green List (High Evidence).
Mendeliome v0.13885 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13885 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from Maturity-onset diabetes of the young, type 14 MIM#616511 to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13884 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Mendeliome v0.13884 DCHS1 Zornitza Stark Phenotypes for gene: DCHS1 were changed from to Van Maldergem syndrome 1, MIM# 601390
Mendeliome v0.13883 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Mendeliome v0.13882 DCHS1 Zornitza Stark Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13881 APPL1 Elena Savva Mode of inheritance for gene: APPL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13881 DCHS1 Zornitza Stark reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13881 APPL1 Elena Savva Classified gene: APPL1 as Amber List (moderate evidence)
Mendeliome v0.13881 APPL1 Elena Savva Gene: appl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13880 APPL1 Elena Savva Phenotypes for gene: APPL1 were changed from to Maturity-onset diabetes of the young, type 14 MIM#616511
Mendeliome v0.13880 APPL1 Elena Savva Publications for gene: APPL1 were set to
Mendeliome v0.13880 APPL1 Elena Savva Mode of inheritance for gene: APPL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13880 APPL1 Elena Savva Classified gene: APPL1 as Amber List (moderate evidence)
Mendeliome v0.13880 APPL1 Elena Savva Gene: appl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13879 APPL1 Elena Savva Gene: appl1 has been classified as Green List (High Evidence).
Mendeliome v0.13879 AQP1 Elena Savva Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension
Mendeliome v0.13879 AQP1 Elena Savva Publications for gene: AQP1 were set to PMID:22683574; 29650961
Mendeliome v0.13878 APRT Elena Savva Marked gene: APRT as ready
Mendeliome v0.13878 APRT Elena Savva Gene: aprt has been classified as Green List (High Evidence).
Mendeliome v0.13878 AQP1 Elena Savva Phenotypes for gene: AQP1 were changed from to Pulmonary arterial hypertension
Mendeliome v0.13877 AQP1 Elena Savva Publications for gene: AQP1 were set to
Mendeliome v0.13877 AQP1 Elena Savva Gene: aqp1 has been classified as Green List (High Evidence).
Mendeliome v0.13877 AQP1 Elena Savva Mode of inheritance for gene: AQP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13876 APRT Elena Savva Phenotypes for gene: APRT were changed from to Adenine phosphoribosyltransferase deficiency MIM#614723
Mendeliome v0.13875 AQP1 Elena Savva reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13875 APRT Elena Savva Publications for gene: APRT were set to
Mendeliome v0.13874 APRT Elena Savva Mode of inheritance for gene: APRT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Publications for gene: APOC4-APOC2 were set to
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Classified gene: APOC4-APOC2 as Red List (low evidence)
Mendeliome v0.13873 APOC4-APOC2 Elena Savva Gene: apoc4-apoc2 has been classified as Red List (Low Evidence).
Mendeliome v0.13872 APRT Elena Savva reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3680503, 2227934, 7915931, 1353080; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13872 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750
Mendeliome v0.13871 APOC4-APOC2 Elena Savva reviewed gene: APOC4-APOC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31034468; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13871 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from to Hyperlipoproteinemia, type Ib MIM#207750
Mendeliome v0.13870 APOC2 Elena Savva Gene: apoc2 has been classified as Green List (High Evidence).
Mendeliome v0.13870 APOC3 Elena Savva Publications for gene: APOC3 were set to PMID: 19074352
Mendeliome v0.13869 APOC2 Elena Savva Publications for gene: APOC2 were set to
Mendeliome v0.13869 APOC2 Elena Savva Mode of inheritance for gene: APOC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13868 APOC2 Elena Savva reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562799, 26044956, 32292609, 32280258; Phenotypes: Hyperlipoproteinemia, type Ib MIM#207750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13868 APOC3 Elena Savva Publications for gene: APOC3 were set to
Mendeliome v0.13868 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Mendeliome v0.13868 APOC3 Elena Savva Phenotypes for gene: APOC3 were changed from to Apolipoprotein C-III deficiency MIM#614028
Mendeliome v0.13867 APOC3 Elena Savva Mode of inheritance for gene: APOC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13866 APOC3 Elena Savva Classified gene: APOC3 as Red List (low evidence)
Mendeliome v0.13866 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Mendeliome v0.13865 APOC3 Elena Savva reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: Apolipoprotein C-III deficiency MIM#614028; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13865 ANXA5 Elena Savva reviewed gene: ANXA5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17339269, 12665588, 34878150; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13865 ACTL6B Zornitza Stark Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13864 ACTL6B Zornitza Stark edited their review of gene: ACTL6B: Changed phenotypes: Epileptic encephalopathy, early infantile, 76, MIM# 618468, Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13864 CCDC50 Zornitza Stark Publications for gene: CCDC50 were set to 17503326; 27911912
Mendeliome v0.13863 CCDC50 Zornitza Stark Classified gene: CCDC50 as Amber List (moderate evidence)
Mendeliome v0.13863 CCDC50 Zornitza Stark Gene: ccdc50 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13862 CCDC50 Zornitza Stark reviewed gene: CCDC50: Rating: AMBER; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13862 MAPKAPK5 Zornitza Stark Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic to Neurocardiofaciodigital syndrome, MIM# 619869
Mendeliome v0.13861 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed phenotypes: Neurocardiofaciodigital syndrome, MIM# 619869
Mendeliome v0.13861 KCNJ2 Ain Roesley Publications for gene: KCNJ2 were set to
Mendeliome v0.13861 KCNJ2 Ain Roesley Mode of pathogenicity for gene: KCNJ2 was changed from Other to None
Mendeliome v0.13860 KCNJ2 Ain Roesley edited their review of gene: KCNJ2: Changed publications: 24383070
Mendeliome v0.13860 KCNJ2 Ain Roesley changed review comment from: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism; to: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative and LoF is the disease mechanism for ATS and CPVT while GoF is the mechanism for short QT
Mendeliome v0.13860 DCAF17 Zornitza Stark Gene: dcaf17 has been classified as Green List (High Evidence).
Mendeliome v0.13860 DCAF17 Zornitza Stark Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, MIM# 241080
Mendeliome v0.13859 DCAF17 Zornitza Stark Publications for gene: DCAF17 were set to
Mendeliome v0.13858 DCAF17 Zornitza Stark Mode of inheritance for gene: DCAF17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13857 DCAF17 Zornitza Stark reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026396, 20507343, 35002959, 34877714, 34732557, 34590781; Phenotypes: Woodhouse-Sakati syndrome, MIM# 241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13857 CYP2C19 Ain Roesley Gene: cyp2c19 has been classified as Green List (High Evidence).
Mendeliome v0.13857 CYP2C19 Ain Roesley Phenotypes for gene: CYP2C19 were changed from to Voriconazole
Mendeliome v0.13857 CYP2C19 Ain Roesley Publications for gene: CYP2C19 were set to
Mendeliome v0.13857 CYP2C19 Ain Roesley Mode of inheritance for gene: CYP2C19 was changed from Unknown to Other
Mendeliome v0.13856 CYP2C19 Ain Roesley reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386, 31549389; Phenotypes: Voriconazole; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.13856 CYP2B6 Ain Roesley Gene: cyp2b6 has been classified as Red List (Low Evidence).
Mendeliome v0.13856 CYP2B6 Ain Roesley Phenotypes for gene: CYP2B6 were changed from to Efavirenz, poor metabolism of MIM#614546
Mendeliome v0.13855 CYP2B6 Ain Roesley Classified gene: CYP2B6 as Red List (low evidence)
Mendeliome v0.13855 CYP2B6 Ain Roesley Gene: cyp2b6 has been classified as Red List (Low Evidence).
Mendeliome v0.13854 CYP2B6 Ain Roesley changed review comment from: No other Mendelian disease association found via punned; to: No other Mendelian disease association found via pubmed
Mendeliome v0.13854 CYP2B6 Ain Roesley reviewed gene: CYP2B6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Efavirenz, poor metabolism of MIM#614546; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13854 DAZ4 Zornitza Stark Gene: daz4 has been classified as Red List (Low Evidence).
Mendeliome v0.13854 DAZ4 Zornitza Stark Classified gene: DAZ4 as Red List (low evidence)
Mendeliome v0.13854 DAZ4 Zornitza Stark Gene: daz4 has been classified as Red List (Low Evidence).
Mendeliome v0.13853 DAZ4 Zornitza Stark reviewed gene: DAZ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13853 DAZ3 Zornitza Stark Gene: daz3 has been classified as Red List (Low Evidence).
Mendeliome v0.13853 DAZ3 Zornitza Stark Classified gene: DAZ3 as Red List (low evidence)
Mendeliome v0.13853 DAZ3 Zornitza Stark Gene: daz3 has been classified as Red List (Low Evidence).
Mendeliome v0.13852 CYP2A6 Ain Roesley Gene: cyp2a6 has been classified as Red List (Low Evidence).
Mendeliome v0.13852 DAZ3 Zornitza Stark reviewed gene: DAZ3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13852 CYP2A6 Ain Roesley Phenotypes for gene: CYP2A6 were changed from to Coumarin resistance MIM#122700
Mendeliome v0.13852 CYP2A6 Ain Roesley Classified gene: CYP2A6 as Red List (low evidence)
Mendeliome v0.13852 CYP2A6 Ain Roesley Gene: cyp2a6 has been classified as Red List (Low Evidence).
Mendeliome v0.13851 CYP2A6 Ain Roesley reviewed gene: CYP2A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coumarin resistance MIM#122700; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13851 DAZ2 Zornitza Stark Gene: daz2 has been classified as Red List (Low Evidence).
Mendeliome v0.13851 DAZ2 Zornitza Stark Classified gene: DAZ2 as Red List (low evidence)
Mendeliome v0.13851 DAZ2 Zornitza Stark Gene: daz2 has been classified as Red List (Low Evidence).
Mendeliome v0.13850 DAZ2 Zornitza Stark reviewed gene: DAZ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13850 DAZ1 Zornitza Stark Gene: daz1 has been classified as Red List (Low Evidence).
Mendeliome v0.13850 DAZ1 Zornitza Stark Classified gene: DAZ1 as Red List (low evidence)
Mendeliome v0.13850 DAZ1 Zornitza Stark Gene: daz1 has been classified as Red List (Low Evidence).
Mendeliome v0.13849 DAZ1 Zornitza Stark reviewed gene: DAZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13849 CYP27A1 Ain Roesley Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Mendeliome v0.13848 CYP27A1 Ain Roesley Gene: cyp27a1 has been classified as Green List (High Evidence).
Mendeliome v0.13848 CYP27A1 Ain Roesley Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Mendeliome v0.13847 CYP27A1 Ain Roesley Publications for gene: CYP27A1 were set to
Mendeliome v0.13847 CYP27A1 Ain Roesley Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13846 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Mendeliome v0.13846 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Mendeliome v0.13845 CYP26C1 Ain Roesley Gene: cyp26c1 has been classified as Green List (High Evidence).
Mendeliome v0.13845 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Mendeliome v0.13845 CYP26C1 Ain Roesley Phenotypes for gene: CYP26C1 were changed from to Focal facial dermal dysplasia 4 MIM#614974
Mendeliome v0.13844 DARS2 Zornitza Stark Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13843 DARS2 Zornitza Stark changed review comment from: Slowly progressive disorder with variable age of onset, multiple families reported.; to: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.
Mendeliome v0.13843 CYP26C1 Ain Roesley Publications for gene: CYP26C1 were set to
Mendeliome v0.13843 CYP26C1 Ain Roesley Mode of inheritance for gene: CYP26C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13842 CYP26C1 Ain Roesley reviewed gene: CYP26C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29263414, 23161670, 16530710; Phenotypes: Focal facial dermal dysplasia 4 MIM#614974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13842 DARS2 Zornitza Stark reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 15002045, 16788019; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13842 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Green List (High Evidence).
Mendeliome v0.13842 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721
Mendeliome v0.13841 D2HGDH Zornitza Stark Publications for gene: D2HGDH were set to
Mendeliome v0.13840 D2HGDH Zornitza Stark Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13839 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 31349060, 15609246, 20020533; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13839 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Mendeliome v0.13839 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis
Mendeliome v0.13838 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Mendeliome v0.13837 CYP7B1 Zornitza Stark Mode of inheritance for gene: CYP7B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13836 CYP1A2 Ain Roesley Gene: cyp1a2 has been classified as Red List (Low Evidence).
Mendeliome v0.13836 CYP1A2 Ain Roesley Classified gene: CYP1A2 as Red List (low evidence)
Mendeliome v0.13836 CYP1A2 Ain Roesley Gene: cyp1a2 has been classified as Red List (Low Evidence).
Mendeliome v0.13835 CYP1A2 Ain Roesley reviewed gene: CYP1A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13835 KLF4 Zornitza Stark Gene: klf4 has been classified as Green List (High Evidence).
Mendeliome v0.13835 KLF4 Zornitza Stark Mode of inheritance for gene: KLF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13834 CYP19A1 Ain Roesley Gene: cyp19a1 has been classified as Green List (High Evidence).
Mendeliome v0.13834 CYP19A1 Ain Roesley Tag SV/CNV tag was added to gene: CYP19A1.
Mendeliome v0.13834 CYP19A1 Ain Roesley Phenotypes for gene: CYP19A1 were changed from to Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD
Mendeliome v0.13833 CYP19A1 Ain Roesley Publications for gene: CYP19A1 were set to
Mendeliome v0.13833 CYP19A1 Ain Roesley Mode of inheritance for gene: CYP19A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13832 CYP19A1 Ain Roesley reviewed gene: CYP19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164303, 25264451; Phenotypes: Aromatase deficiency (MIM#613546), AR, Aromatase excess syndrome (MIM#139300), AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13832 CYCS Ain Roesley Gene: cycs has been classified as Green List (High Evidence).
Mendeliome v0.13832 CYCS Ain Roesley Phenotypes for gene: CYCS were changed from to Thrombocytopenia 4, MIM# 612004
Mendeliome v0.13831 CYCS Ain Roesley Publications for gene: CYCS were set to
Mendeliome v0.13831 CYCS Ain Roesley Mode of inheritance for gene: CYCS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13830 CYCS Ain Roesley reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24326104, 18345000, 30051457; Phenotypes: Thrombocytopenia 4, MIM# 612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13830 NRG1 Zornitza Stark Phenotypes for gene: NRG1 were changed from Hirschsprung disease to Hirschsprung disease, MONDO:0018309; Peripheral neuropathy MONDO:0005244
Mendeliome v0.13829 NRG1 Zornitza Stark Classified gene: NRG1 as Amber List (moderate evidence)
Mendeliome v0.13829 NRG1 Zornitza Stark Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13828 CYC1 Ain Roesley Gene: cyc1 has been classified as Green List (High Evidence).
Mendeliome v0.13828 CTR9 Zornitza Stark Phenotypes for gene: CTR9 were changed from Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258) to Neurodevelopmental disorder (MONDO:0700092), CTR9 related
Mendeliome v0.13827 CYC1 Ain Roesley Publications for gene: CYC1 were set to
Mendeliome v0.13828 CYC1 Ain Roesley Phenotypes for gene: CYC1 were changed from to Mitochondrial complex III deficiency, nuclear type 6 MIM#615453
Mendeliome v0.13827 CYC1 Ain Roesley Mode of inheritance for gene: CYC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13826 CYC1 Ain Roesley reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910460, 34252606; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6 MIM#615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13826 DNAH14 Zornitza Stark Phenotypes for gene: DNAH14 were changed from Neurodevelopmental disorder, DNAH14-related (MONDO#0700092) to Neurodevelopmental disorder (MONDO#0700092), DNAH14-related
Mendeliome v0.13825 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 to oculopharyngeal muscular dystrophy, MONDO:0008116; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Mendeliome v0.13824 HNRNPA2B1 Zornitza Stark Classified gene: HNRNPA2B1 as Green List (high evidence)
Mendeliome v0.13824 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Mendeliome v0.13823 DTYMK Zornitza Stark Phenotypes for gene: DTYMK were changed from Intellectual disability; microcephaly to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Mendeliome v0.13822 DTYMK Zornitza Stark Publications for gene: DTYMK were set to 31271740
Mendeliome v0.13821 DTYMK Zornitza Stark Classified gene: DTYMK as Green List (high evidence)
Mendeliome v0.13821 DTYMK Zornitza Stark Gene: dtymk has been classified as Green List (High Evidence).
Mendeliome v0.13820 KCNH5 Zornitza Stark Gene: kcnh5 has been classified as Green List (High Evidence).
Mendeliome v0.13820 CREB1 Zornitza Stark Phenotypes for gene: CREB1 were changed from corpus callosum agenesis; thyroid follicular hypoplasia to Agenesis of corpus callosum, MONDO:0009022
Mendeliome v0.13819 CREB1 Zornitza Stark edited their review of gene: CREB1: Changed rating: RED
Mendeliome v0.13819 CREB1 Zornitza Stark reviewed gene: CREB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of corpus callosum, MONDO:0009022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13819 SLC16A12 Zornitza Stark Gene: slc16a12 has been classified as Green List (High Evidence).
Mendeliome v0.13819 SLC16A12 Zornitza Stark Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea, MIM# 612018
Mendeliome v0.13818 SLC16A12 Zornitza Stark Publications for gene: SLC16A12 were set to
Mendeliome v0.13817 SLC16A12 Zornitza Stark Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13816 SLC14A1 Zornitza Stark Gene: slc14a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13816 SLC14A1 Zornitza Stark Phenotypes for gene: SLC14A1 were changed from to [Blood group, Kidd], MIM#111000
Mendeliome v0.13815 SLC14A1 Zornitza Stark Publications for gene: SLC14A1 were set to
Mendeliome v0.13814 SLC14A1 Zornitza Stark Mode of inheritance for gene: SLC14A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13813 SLC14A1 Zornitza Stark Classified gene: SLC14A1 as Red List (low evidence)
Mendeliome v0.13813 SLC14A1 Zornitza Stark Gene: slc14a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13812 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Mendeliome v0.13812 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685
Mendeliome v0.13811 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Mendeliome v0.13810 SLC12A5 Zornitza Stark Mode of inheritance for gene: SLC12A5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13809 CORIN Zornitza Stark Gene: corin has been classified as Red List (Low Evidence).
Mendeliome v0.13809 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Mendeliome v0.13809 DUSP6 Zornitza Stark Phenotypes for gene: DUSP6 were changed from to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Mendeliome v0.13808 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to
Mendeliome v0.13807 DUSP6 Zornitza Stark Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13806 DUSP6 Zornitza Stark Classified gene: DUSP6 as Red List (low evidence)
Mendeliome v0.13806 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Mendeliome v0.13805 DYRK1B Zornitza Stark Gene: dyrk1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13805 DYRK1B Zornitza Stark Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3 - MIM#615812
Mendeliome v0.13804 DYRK1B Zornitza Stark Publications for gene: DYRK1B were set to
Mendeliome v0.13803 DYRK1B Zornitza Stark Mode of inheritance for gene: DYRK1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13802 DYRK1B Zornitza Stark Classified gene: DYRK1B as Amber List (moderate evidence)
Mendeliome v0.13802 DYRK1B Zornitza Stark Gene: dyrk1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13801 COL27A1 Zornitza Stark reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Steel syndrome MIM #615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13801 COL27A1 Zornitza Stark Mode of inheritance for gene: COL27A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13800 KCNJ2 Ain Roesley Deleted their comment
Mendeliome v0.13800 KLF4 Elena Savva Classified gene: KLF4 as Green List (high evidence)
Mendeliome v0.13800 KLF4 Elena Savva Gene: klf4 has been classified as Green List (High Evidence).
Mendeliome v0.13799 DTYMK Daniel Flanagan reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 34918187, 31271740; Phenotypes: Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13799 NRG1 Alison Yeung Classified gene: NRG1 as Red List (low evidence)
Mendeliome v0.13799 NRG1 Alison Yeung Added comment: Comment on list classification: Red for peripheral neuropathy (single family reported)
Amber for Hirschsprung disease
Mendeliome v0.13799 NRG1 Alison Yeung Gene: nrg1 has been classified as Red List (Low Evidence).
Mendeliome v0.13798 KLF4 Elena Savva gene: KLF4 was added
gene: KLF4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF4 were set to PMID: 35168889; 10431239
Phenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Review for gene: KLF4 was set to GREEN
Added comment: PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.
Functional studies on patient skin biopsy shows "slightly but significantly decreased" protein expression in both children.
Gene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.

PMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function

gnomAD: single het fs in the population
Sources: Literature
Mendeliome v0.13798 P3H2 Zornitza Stark Publications for gene: P3H2 were set to 21885030; 24172257; 25469533
Mendeliome v0.13797 CTR9 Zornitza Stark Marked gene: CTR9 as ready
Mendeliome v0.13797 CTR9 Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence).
Mendeliome v0.13797 HNRNPA2B1 Naomi Baker reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:35484142; Phenotypes: oculopharyngeal muscular dystrophy, MONDO:0008116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13797 CTR9 Zornitza Stark Classified gene: CTR9 as Green List (high evidence)
Mendeliome v0.13797 CTR9 Zornitza Stark Gene: ctr9 has been classified as Green List (High Evidence).
Mendeliome v0.13796 P3H2 Daniel Flanagan reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35499085; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13796 CDH4 Ain Roesley Gene: cdh4 has been classified as Red List (Low Evidence).
Mendeliome v0.13796 DNAH14 Zornitza Stark Gene: dnah14 has been classified as Green List (High Evidence).
Mendeliome v0.13796 CDH4 Ain Roesley gene: CDH4 was added
gene: CDH4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH4 were set to 35034853
Phenotypes for gene: CDH4 were set to coloboma MONDO#0001476, CDH4-related
Review for gene: CDH4 was set to RED
gene: CDH4 was marked as current diagnostic
Added comment: 1x family with AD coloboma

Also presented with ID and post natal microcephaly

zebrafish KO model
Sources: Literature
Mendeliome v0.13796 DNAH14 Zornitza Stark Classified gene: DNAH14 as Green List (high evidence)
Mendeliome v0.13796 DNAH14 Zornitza Stark Gene: dnah14 has been classified as Green List (High Evidence).
Mendeliome v0.13795 NRG1 Lucy Spencer reviewed gene: NRG1: Rating: RED; Mode of pathogenicity: None; Publications: 35485770; Phenotypes: Peripheral neuropathy MONDO:0005244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13795 PDGFRA Ain Roesley changed review comment from: 1x family with AD coloboma

zebrafish KO model; to: 1x family with AD coloboma

Also presented with global developmental delay, autistic behaviour, delayed gross motor development

zebrafish KO model
Mendeliome v0.13795 PDGFRA Ain Roesley changed review comment from: 1x family with AD coloboma; to: 1x family with AD coloboma

zebrafish KO model
Mendeliome v0.13795 PDGFRA Ain Roesley Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510 to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; coloboma MONDO#0001476, PDGFRA-related
Mendeliome v0.13794 PDGFRA Ain Roesley Publications for gene: PDGFRA were set to 14699510; 17087943; 25975287; 29486293; 33449152; 34107389; 17566086; 18670346
Mendeliome v0.13793 PDGFRA Ain Roesley reviewed gene: PDGFRA: Rating: RED; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, PDGFRA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13793 CD164 Alison Yeung Gene: cd164 has been classified as Green List (High Evidence).
Mendeliome v0.13793 CD164 Alison Yeung Classified gene: CD164 as Green List (high evidence)
Mendeliome v0.13793 CD164 Alison Yeung Gene: cd164 has been classified as Green List (High Evidence).
Mendeliome v0.13792 CD164 Alison Yeung gene: CD164 was added
gene: CD164 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CD164 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CD164 were set to 26197441; 35254497; 26197441
Phenotypes for gene: CD164 were set to Deafness, autosomal dominant 66, MIM# 616969
Review for gene: CD164 was set to GREEN
Added comment: p.(Arg192Ter), a truncating variant that results in loss of 6 amino acids, was detected in two families (one Polish and one Korean) with hearing loss. Four affected (heterozygous) and two unaffected (neg) were tested, however 14 members had been diagnosed with HL in a large multi generational family (gene panel 237 genes). The second family (WES) had two affected heterozygous and no unaffected were tested. This same variant had previously been reported in a Danish family (12 affected heterozygous and 13 unaffected negative, but one younger member unaffected are heterozygous) with hearing loss (PMID: 26197441), for which functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments. The YHTL motif, deleted by the c.574C>T nonsense mutation, is a canonical sorting motif
known to be recognized by specific adaptor proteins in the cytosol, leading to subcellular trafficking of the transmembrane protein to endosomes and lysosomes.
Sources: Literature
Mendeliome v0.13791 CTR9 Dean Phelan gene: CTR9 was added
gene: CTR9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTR9 were set to PMID: 35499524
Phenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258)
Review for gene: CTR9 was set to GREEN
Added comment: PMID: 35499524 - Thirteen individuals with variables degrees of intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, autism spectrum disorder. Mild dysmorphism and cardiac anomalies were less frequent. Eleven of the variants were shown to be de novo.
Sources: Literature
Mendeliome v0.13791 TULP3 Zornitza Stark Marked gene: TULP3 as ready
Mendeliome v0.13791 TULP3 Zornitza Stark Gene: tulp3 has been classified as Green List (High Evidence).
Mendeliome v0.13791 TULP3 Zornitza Stark Classified gene: TULP3 as Green List (high evidence)
Mendeliome v0.13791 TULP3 Zornitza Stark Gene: tulp3 has been classified as Green List (High Evidence).
Mendeliome v0.13791 BMPR1B Ain Roesley Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600 to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600; coloboma MONDO#0001476, BMPR1B-related
Mendeliome v0.13790 BMPR1B Ain Roesley Publications for gene: BMPR1B were set to 15805157; 24129431; 26105076; 25758993; 14523231; 14523231
Mendeliome v0.13789 BMPR1B Ain Roesley reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13789 DNAH14 Chern Lim gene: DNAH14 was added
gene: DNAH14 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH14 were set to PMID: 35438214
Phenotypes for gene: DNAH14 were set to Neurodevelopmental disorder, DNAH14-related (MONDO#0700092)
Review for gene: DNAH14 was set to GREEN
gene: DNAH14 was marked as current diagnostic
Added comment: PMID: 35438214:
- Three previously unreported patients with compound heterozygous DNAH14 variants, including one nonsense, one frameshift, and four missense variants. A spectrum of neurological and developmental phenotypes was observed, including seizures, global developmental delay, microcephaly, and hypotonia.
Sources: Literature
Mendeliome v0.13789 ANK3 Ain Roesley Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related
Mendeliome v0.13788 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Mendeliome v0.13788 ANK3 Ain Roesley Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant; coloboma MONDO#0001476, ANK3-related
Mendeliome v0.13789 KCNH5 Elena Savva Classified gene: KCNH5 as Green List (high evidence)
Mendeliome v0.13789 KCNH5 Elena Savva Gene: kcnh5 has been classified as Green List (High Evidence).
Mendeliome v0.13788 ANK3 Ain Roesley Publications for gene: ANK3 were set to 23390136; 28687526; 34218362
Mendeliome v0.13787 TULP3 Anna Ritchie gene: TULP3 was added
gene: TULP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to PMID: 35397207
Phenotypes for gene: TULP3 were set to progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045
Review for gene: TULP3 was set to GREEN
Added comment: 15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis with variable fibrocystic kidney disease and hypertrophic cardiomyopathy.

The human phenotype was ecapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals
Sources: Literature
Mendeliome v0.13787 ANK3 Ain Roesley reviewed gene: ANK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 35034853; Phenotypes: coloboma MONDO#0001476, ANK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13787 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461; 34730112
Mendeliome v0.13786 DROSHA Zornitza Stark Gene: drosha has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13786 DROSHA Zornitza Stark Classified gene: DROSHA as Amber List (moderate evidence)
Mendeliome v0.13786 DROSHA Zornitza Stark Gene: drosha has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13786 KCNH5 Elena Savva Classified gene: KCNH5 as Green List (high evidence)
Mendeliome v0.13786 KCNH5 Elena Savva Gene: kcnh5 has been classified as Green List (High Evidence).
Mendeliome v0.13785 KCNH5 Elena Savva Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder MONDO#0700092, KCNH5-related
Mendeliome v0.13784 EFEMP1 Alison Yeung reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34923728; Phenotypes: Juvenile-onset open angle glaucoma, MONDO:0020367, EFEMP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13784 PRDM13 Dean Phelan reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35390279; Phenotypes: Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13784 DROSHA Lucy Spencer gene: DROSHA was added
gene: DROSHA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DROSHA were set to 35405010
Phenotypes for gene: DROSHA were set to Neurodevelopmental disorder (MONDO#0700092), DROSHA-related
Review for gene: DROSHA was set to AMBER
Added comment: 2 individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA. Both variants are missense, absent from gnomad. Both individuals noted to have Rett-like features.

Functional studies in patient fibroblasts showed one of the missense altered the expression of mature miRNA. Fruit fly models with homozygous LOF variants die during larval stages. introduction of the missense seen in the patients was able to partially rescue this phenotype suggesting LOF is not the mechanism.
Sources: Literature
Mendeliome v0.13784 KCNH5 Elena Savva gene: KCNH5 was added
gene: KCNH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Phenotypes for gene: KCNH5 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: KCNH5 was set to Other
Review for gene: KCNH5 was set to GREEN
Added comment: Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.
Patient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)

p.Arg327His (7 probands), p.Arg333His (4 probands) were recurring
Sources: Literature
Mendeliome v0.13783 PPFIBP1 Zornitza Stark Gene: ppfibp1 has been classified as Green List (High Evidence).
Mendeliome v0.13783 STX1A Ain Roesley Marked gene: STX1A as ready
Mendeliome v0.13783 STX1A Ain Roesley Gene: stx1a has been classified as Green List (High Evidence).
Mendeliome v0.13783 STX1A Ain Roesley Phenotypes for gene: STX1A were changed from to neurodevelopmental disorder MONDO#0700092, STX1A-related
Mendeliome v0.13783 PPFIBP1 Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related
Mendeliome v0.13782 STX1A Ain Roesley changed review comment from: Preprint:
8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)

7 unrelated since the 2 siblings share similar features:
7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria
Sources: Literature; to: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1
8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)

7 unrelated since the 2 siblings share similar features:
7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria
Sources: Literature
Mendeliome v0.13782 PPFIBP1 Zornitza Stark Classified gene: PPFIBP1 as Green List (high evidence)
Mendeliome v0.13782 PPFIBP1 Zornitza Stark Gene: ppfibp1 has been classified as Green List (High Evidence).
Mendeliome v0.13781 STX1A Ain Roesley edited their review of gene: STX1A: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, STX1A-related
Mendeliome v0.13781 PPFIBP1 Zornitza Stark gene: PPFIBP1 was added
gene: PPFIBP1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to https://www.medrxiv.org/content/10.1101/2022.04.04.22273309v1
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: PPFIBP1 was set to GREEN
Added comment: 16 individuals from 10 unrelated families reported with moderate to profound developmental delay, often refractory early-onset epilepsy and progressive microcephaly. Drosophila model.
Sources: Expert Review
Mendeliome v0.13780 STX1A Ain Roesley Mode of inheritance for gene: STX1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13779 STX1A Ain Roesley Classified gene: STX1A as Green List (high evidence)
Mendeliome v0.13779 STX1A Ain Roesley Gene: stx1a has been classified as Green List (High Evidence).
Mendeliome v0.13778 STX1A Ain Roesley gene: STX1A was added
gene: STX1A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Review for gene: STX1A was set to GREEN
gene: STX1A was marked as current diagnostic
Added comment: Preprint:
8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)

7 unrelated since the 2 siblings share similar features:
7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria
Sources: Literature
Mendeliome v0.13777 HYDIN Zornitza Stark Gene: hydin has been classified as Green List (High Evidence).
Mendeliome v0.13777 HYDIN Zornitza Stark Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#608647)
Mendeliome v0.13776 HYDIN Zornitza Stark Publications for gene: HYDIN were set to
Mendeliome v0.13775 HYDIN Zornitza Stark Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13774 HYDIN Zornitza Stark reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022101, 23849777, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13774 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Mendeliome v0.13774 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mendeliome v0.13774 HTRA2 Zornitza Stark Phenotypes for gene: HTRA2 were changed from to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Mendeliome v0.13773 HTRA2 Zornitza Stark Publications for gene: HTRA2 were set to
Mendeliome v0.13772 HTRA2 Zornitza Stark Mode of inheritance for gene: HTRA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13771 HTRA2 Zornitza Stark reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM# 617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13771 HTR1A Zornitza Stark Marked gene: HTR1A as ready
Mendeliome v0.13771 HTR1A Zornitza Stark Gene: htr1a has been classified as Red List (Low Evidence).
Mendeliome v0.13771 HTR1A Zornitza Stark Phenotypes for gene: HTR1A were changed from to Periodic fever, menstrual cycle dependent, MIM# 614674
Mendeliome v0.13770 HTR1A Zornitza Stark Publications for gene: HTR1A were set to
Mendeliome v0.13769 HTR1A Zornitza Stark Mode of inheritance for gene: HTR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13768 HTR1A Zornitza Stark Classified gene: HTR1A as Red List (low evidence)
Mendeliome v0.13768 HTR1A Zornitza Stark Gene: htr1a has been classified as Red List (Low Evidence).
Mendeliome v0.13767 HTR1A Zornitza Stark reviewed gene: HTR1A: Rating: RED; Mode of pathogenicity: None; Publications: 21990073; Phenotypes: Periodic fever, menstrual cycle dependent, MIM# 614674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13767 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Mendeliome v0.13767 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280
Mendeliome v0.13766 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Mendeliome v0.13765 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13764 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012, 11898127, 17420924; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233, Spastic paraplegia 13, autosomal dominant, MIM# 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13764 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Mendeliome v0.13764 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis
Mendeliome v0.13763 HSD3B7 Zornitza Stark Publications for gene: HSD3B7 were set to
Mendeliome v0.13762 HSD3B7 Zornitza Stark Mode of inheritance for gene: HSD3B7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13761 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Mendeliome v0.13761 HSD3B2 Zornitza Stark Phenotypes for gene: HSD3B2 were changed from to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Mendeliome v0.13760 HSD3B2 Zornitza Stark Publications for gene: HSD3B2 were set to
Mendeliome v0.13759 HSD3B2 Zornitza Stark Mode of inheritance for gene: HSD3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13758 HSD3B2 Zornitza Stark reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1363812, 18252794; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13758 CPN1 Ain Roesley changed review comment from: only 1 probed reported thus far; to: only 1 proband reported thus far
Mendeliome v0.13758 CUBN Ain Roesley Gene: cubn has been classified as Green List (High Evidence).
Mendeliome v0.13758 CUBN Ain Roesley Phenotypes for gene: CUBN were changed from to Imerslund-Grasbeck syndrome 1 MIM#261100 AR; [Proteinuria, chronic benign] MIM#618884
Mendeliome v0.13757 CUBN Ain Roesley Publications for gene: CUBN were set to
Mendeliome v0.13756 CUBN Ain Roesley Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13755 CUBN Ain Roesley reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31613795, 21903995, 31497480; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100 AR, [Proteinuria, chronic benign] MIM#618884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13755 CTSF Ain Roesley Marked gene: CTSF as ready
Mendeliome v0.13755 CTSF Ain Roesley Gene: ctsf has been classified as Green List (High Evidence).
Mendeliome v0.13755 CTSF Ain Roesley Publications for gene: CTSF were set to
Mendeliome v0.13755 CTSF Ain Roesley Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Mendeliome v0.13754 CTSF Ain Roesley Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13753 CTSF Ain Roesley reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13753 CTSC Ain Roesley Marked gene: CTSC as ready
Mendeliome v0.13753 CTSC Ain Roesley Gene: ctsc has been classified as Green List (High Evidence).
Mendeliome v0.13753 CTSC Ain Roesley Phenotypes for gene: CTSC were changed from to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; Periodontitis 1, juvenile MIM#170650
Mendeliome v0.13752 CTSC Ain Roesley reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11106356, 32601924, 10581027, 14974080, 10662808; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13752 CTSC Ain Roesley Publications for gene: CTSC were set to
Mendeliome v0.13751 CTSC Ain Roesley Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13750 CTNS Ain Roesley Marked gene: CTNS as ready
Mendeliome v0.13750 CTNS Ain Roesley Gene: ctns has been classified as Green List (High Evidence).
Mendeliome v0.13750 CTNS Ain Roesley Phenotypes for gene: CTNS were changed from to Cystinosis, atypical nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750
Mendeliome v0.13749 CTNS Ain Roesley Publications for gene: CTNS were set to
Mendeliome v0.13748 CTNS Ain Roesley Mode of inheritance for gene: CTNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13747 CTNS Ain Roesley edited their review of gene: CTNS: Changed rating: GREEN
Mendeliome v0.13747 CTNS Ain Roesley Deleted their comment
Mendeliome v0.13747 CTNS Ain Roesley commented on gene: CTNS: Established association.

Genereviews PMID:20301574
Mendeliome v0.13747 CTNS Ain Roesley reviewed gene: CTNS: Rating: ; Mode of pathogenicity: None; Publications: 20301574, 9537412, 31068690; Phenotypes: Cystinosis, atypical nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, nephropathic MIM#219800, Cystinosis, ocular nonnephropathic MIM#219750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13747 CTNNA1 Ain Roesley Marked gene: CTNNA1 as ready
Mendeliome v0.13747 CTNNA1 Ain Roesley Gene: ctnna1 has been classified as Green List (High Evidence).
Mendeliome v0.13747 CTNNA1 Ain Roesley Phenotypes for gene: CTNNA1 were changed from to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970; Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related
Mendeliome v0.13746 CTNNA1 Ain Roesley Publications for gene: CTNNA1 were set to
Mendeliome v0.13746 CTNNA1 Ain Roesley Mode of inheritance for gene: CTNNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13745 CTNNA1 Ain Roesley reviewed gene: CTNNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26691986, 33497368; Phenotypes: Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970, Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13745 CTHRC1 Ain Roesley Marked gene: CTHRC1 as ready
Mendeliome v0.13745 CTHRC1 Ain Roesley Gene: cthrc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13745 CTHRC1 Ain Roesley Phenotypes for gene: CTHRC1 were changed from to Barrett esophagus/esophageal adenocarcinoma MIM#614266
Mendeliome v0.13745 CTHRC1 Ain Roesley Publications for gene: CTHRC1 were set to
Mendeliome v0.13744 CTHRC1 Ain Roesley Classified gene: CTHRC1 as Red List (low evidence)
Mendeliome v0.13744 CTHRC1 Ain Roesley Gene: cthrc1 has been classified as Red List (Low Evidence).
Mendeliome v0.13743 CTHRC1 Ain Roesley reviewed gene: CTHRC1: Rating: RED; Mode of pathogenicity: None; Publications: 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma MIM#614266; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13743 CSRP3 Ain Roesley Gene: csrp3 has been classified as Green List (High Evidence).
Mendeliome v0.13743 CSRP3 Ain Roesley Phenotypes for gene: CSRP3 were changed from to hypertrophic cardiomyopathy12 MIM#612124; dilated cardiomyopathy 1M MIM#607482
Mendeliome v0.13742 CSRP3 Ain Roesley Publications for gene: CSRP3 were set to
Mendeliome v0.13742 CSRP3 Ain Roesley Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13741 CSRP3 Ain Roesley reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18505755, 30681346, 12507422, 14567970, 19412328; Phenotypes: hypertrophic cardiomyopathy12 MIM#612124, dilated cardiomyopathy 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13741 CRYGS Ain Roesley Gene: crygs has been classified as Green List (High Evidence).
Mendeliome v0.13741 CRYGS Ain Roesley Phenotypes for gene: CRYGS were changed from to Cataract 20, multiple types MIM#116100
Mendeliome v0.13740 CRYGS Ain Roesley Publications for gene: CRYGS were set to
Mendeliome v0.13740 CRYGS Ain Roesley Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13739 CRYGS Ain Roesley reviewed gene: CRYGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 34014271, 16141006, 18587492, 19262743; Phenotypes: Cataract 20, multiple types MIM#116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13739 CRYGB Ain Roesley Gene: crygb has been classified as Red List (Low Evidence).
Mendeliome v0.13739 CRYGB Ain Roesley Phenotypes for gene: CRYGB were changed from to Cataract 39, multiple types, autosomal dominant MIM#615188
Mendeliome v0.13738 CRYGB Ain Roesley Mode of inheritance for gene: CRYGB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13739 CRYGB Ain Roesley Publications for gene: CRYGB were set to
Mendeliome v0.13738 CRYGB Ain Roesley Classified gene: CRYGB as Red List (low evidence)
Mendeliome v0.13738 CRYGB Ain Roesley Gene: crygb has been classified as Red List (Low Evidence).
Mendeliome v0.13737 CRYGB Ain Roesley reviewed gene: CRYGB: Rating: RED; Mode of pathogenicity: None; Publications: 23288985; Phenotypes: Cataract 39, multiple types, autosomal dominant MIM#615188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13737 CRYAB Ain Roesley Gene: cryab has been classified as Green List (High Evidence).
Mendeliome v0.13737 CRYAB Ain Roesley Phenotypes for gene: CRYAB were changed from to Cataract 16, multiple types MIM#613763 AD, AR; Myopathy, myofibrillar, 2 MIM#608810 AD; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR
Mendeliome v0.13736 CRYAB Ain Roesley Publications for gene: CRYAB were set to
Mendeliome v0.13736 CRYAB Ain Roesley Mode of inheritance for gene: CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13735 CRYAB Ain Roesley reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31215171, 21337604, 21130652, 32420686, 33272090; Phenotypes: Cataract 16, multiple types MIM#613763 AD, AR, Myopathy, myofibrillar, 2 MIM#608810 AD, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related MIM#613869 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13735 CRX Ain Roesley Gene: crx has been classified as Green List (High Evidence).
Mendeliome v0.13735 CRX Ain Roesley Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829; Cone-rod retinal dystrophy-2 MIM#120970
Mendeliome v0.13734 CRX Ain Roesley Publications for gene: CRX were set to
Mendeliome v0.13734 CRX Ain Roesley Mode of inheritance for gene: CRX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13733 CRX Ain Roesley reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190, 32927963, 33910785; Phenotypes: Leber congenital amaurosis 7, MIM# 613829, Cone-rod retinal dystrophy-2 MIM#120970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13733 CREB1 Ain Roesley Classified gene: CREB1 as Red List (low evidence)
Mendeliome v0.13733 CREB1 Ain Roesley Gene: creb1 has been classified as Red List (Low Evidence).
Mendeliome v0.13732 CREB1 Ain Roesley Gene: creb1 has been classified as Green List (High Evidence).
Mendeliome v0.13732 CREB1 Ain Roesley Phenotypes for gene: CREB1 were changed from to corpus callosum agenesis; thyroid follicular hypoplasia
Mendeliome v0.13731 CREB1 Ain Roesley Publications for gene: CREB1 were set to
Mendeliome v0.13730 CREB1 Ain Roesley Mode of inheritance for gene: CREB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13729 CREB1 Ain Roesley reviewed gene: CREB1: Rating: RED; Mode of pathogenicity: None; Publications: 22267179; Phenotypes: corpus callosum agenesis, thyroid follicular hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13729 SLC16A12 Samantha Ayres reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20181839, 21778275, 18304496, 29088427, 34126080; Phenotypes: Cataract 47, juvenile, with microcornea, MIM# 612018; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13729 CRBN Ain Roesley Gene: crbn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13729 CRBN Ain Roesley Phenotypes for gene: CRBN were changed from to Intellectual developmental disorder, autosomal recessive 2 MIM#607417
Mendeliome v0.13728 CRBN Ain Roesley Mode of inheritance for gene: CRBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13729 CRBN Ain Roesley Publications for gene: CRBN were set to
Mendeliome v0.13728 CRBN Ain Roesley Classified gene: CRBN as Amber List (moderate evidence)
Mendeliome v0.13728 CRBN Ain Roesley Gene: crbn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13727 CRBN Ain Roesley reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: None; Publications: 15557513, 28143899; Phenotypes: Intellectual developmental disorder, autosomal recessive 2 MIM#607417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13727 CRB1 Ain Roesley Gene: crb1 has been classified as Green List (High Evidence).
Mendeliome v0.13727 CRB1 Ain Roesley Phenotypes for gene: CRB1 were changed from to Leber congenital amaurosis 8 MIM#613835; Pigmented paravenous chorioretinal atrophy MIM#172870; Retinitis pigmentosa-12 MIM#600105
Mendeliome v0.13726 CRB1 Ain Roesley Publications for gene: CRB1 were set to
Mendeliome v0.13726 CRB1 Ain Roesley Mode of inheritance for gene: CRB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13725 CRB1 Ain Roesley reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30285347, 32922261, 31884620, 15459956; Phenotypes: Leber congenital amaurosis 8 MIM#613835, Pigmented paravenous chorioretinal atrophy MIM#172870, Retinitis pigmentosa-12 MIM#600105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13725 CPT1A Ain Roesley Marked gene: CPT1A as ready
Mendeliome v0.13725 CPT1A Ain Roesley Gene: cpt1a has been classified as Green List (High Evidence).
Mendeliome v0.13725 CPT1A Ain Roesley Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120
Mendeliome v0.13724 CPT1A Ain Roesley Publications for gene: CPT1A were set to
Mendeliome v0.13724 CPT1A Ain Roesley Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13723 CPT1A Ain Roesley reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13723 CPS1 Ain Roesley Gene: cps1 has been classified as Green List (High Evidence).
Mendeliome v0.13723 CPS1 Ain Roesley Publications for gene: CPS1 were set to
Mendeliome v0.13722 CPS1 Ain Roesley Deleted their review
Mendeliome v0.13722 CPS1 Ain Roesley reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950, 31268178; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13722 CPOX Ain Roesley Gene: cpox has been classified as Green List (High Evidence).
Mendeliome v0.13722 CPOX Ain Roesley Phenotypes for gene: CPOX were changed from to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300
Mendeliome v0.13722 CPOX Ain Roesley Publications for gene: CPOX were set to
Mendeliome v0.13721 CPOX Ain Roesley Mode of inheritance for gene: CPOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13720 CPOX Ain Roesley reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30828546, 28349448, 23582006, 24156084; Phenotypes: Coproporphyria, MIM#121300, Harderoporphyria, MIM#121300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13720 CPN1 Ain Roesley Gene: cpn1 has been classified as Red List (Low Evidence).
Mendeliome v0.13720 CPN1 Ain Roesley Phenotypes for gene: CPN1 were changed from to Carboxypeptidase N deficiency MIM#212070
Mendeliome v0.13719 CPN1 Ain Roesley Publications for gene: CPN1 were set to
Mendeliome v0.13718 CPN1 Ain Roesley Mode of inheritance for gene: CPN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13718 CPN1 Ain Roesley Classified gene: CPN1 as Red List (low evidence)
Mendeliome v0.13718 CPN1 Ain Roesley Gene: cpn1 has been classified as Red List (Low Evidence).
Mendeliome v0.13717 CPN1 Ain Roesley reviewed gene: CPN1: Rating: RED; Mode of pathogenicity: None; Publications: 12560874, 7437116; Phenotypes: Carboxypeptidase N deficiency MIM#212070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13717 COMP Ain Roesley Gene: comp has been classified as Green List (High Evidence).
Mendeliome v0.13717 HSD11B1 Zornitza Stark Gene: hsd11b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13717 HSD11B1 Zornitza Stark Phenotypes for gene: HSD11B1 were changed from to Cortisone reductase deficiency 2, MIM# 614662
Mendeliome v0.13716 HSD11B1 Zornitza Stark Publications for gene: HSD11B1 were set to
Mendeliome v0.13715 HSD11B1 Zornitza Stark Mode of inheritance for gene: HSD11B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13714 HSD11B1 Zornitza Stark Classified gene: HSD11B1 as Amber List (moderate evidence)
Mendeliome v0.13714 HSD11B1 Zornitza Stark Gene: hsd11b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13713 HSD11B1 Zornitza Stark reviewed gene: HSD11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21325058; Phenotypes: Cortisone reductase deficiency 2, MIM# 614662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13713 SLC14A1 Samantha Ayres reviewed gene: SLC14A1: Rating: RED; Mode of pathogenicity: None; Publications: 28065763, 27834480; Phenotypes: [Blood group, Kidd], MIM#111000; Mode of inheritance: Unknown
Mendeliome v0.13713 SLC12A5 Samantha Ayres reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34, MIM# 616645, {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13713 HRG Zornitza Stark Gene: hrg has been classified as Green List (High Evidence).
Mendeliome v0.13713 HRG Zornitza Stark Phenotypes for gene: HRG were changed from to Thrombophilia 11 due to HRG deficiency, MIM# 613116
Mendeliome v0.13712 HRG Zornitza Stark Publications for gene: HRG were set to
Mendeliome v0.13711 HRG Zornitza Stark Mode of inheritance for gene: HRG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13710 HRG Zornitza Stark reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8236132, 11057869, 11057869, 29108964; Phenotypes: Thrombophilia 11 due to HRG deficiency, MIM# 613116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13710 HP Zornitza Stark Gene: hp has been classified as Red List (Low Evidence).
Mendeliome v0.13710 HP Zornitza Stark Phenotypes for gene: HP were changed from to [Anhaptoglobinemia] 614081; [Hypohaptoglobinemia] 614081
Mendeliome v0.13709 HP Zornitza Stark Classified gene: HP as Red List (low evidence)
Mendeliome v0.13709 HP Zornitza Stark Gene: hp has been classified as Red List (Low Evidence).
Mendeliome v0.13708 HP Zornitza Stark reviewed gene: HP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Anhaptoglobinemia] 614081, [Hypohaptoglobinemia] 614081; Mode of inheritance: None
Mendeliome v0.13708 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Mendeliome v0.13708 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713
Mendeliome v0.13707 HOXD13 Zornitza Stark Publications for gene: HOXD13 were set to
Mendeliome v0.13706 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13705 HOXD13 Zornitza Stark reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13705 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Mendeliome v0.13705 HOXA13 Zornitza Stark Phenotypes for gene: HOXA13 were changed from to Hand-foot-uterus syndrome, MIM# 140000
Mendeliome v0.13704 HOXA13 Zornitza Stark Publications for gene: HOXA13 were set to
Mendeliome v0.13703 HOXA13 Zornitza Stark Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13702 HOXA13 Zornitza Stark reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: None; Publications: 10839976, 9020844; Phenotypes: Hand-foot-uterus syndrome, MIM# 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13702 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Mendeliome v0.13702 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Mendeliome v0.13701 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Mendeliome v0.13700 HOXA1 Zornitza Stark Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13699 HOXA1 Zornitza Stark changed review comment from: At least 10 families reported.

175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the Native American variant.

Features include:
Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base

Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.; to: Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.

At least 10 families reported.

175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the Native American variant.

Features include:
Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base
Mendeliome v0.13699 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13699 HNRNPA1 Zornitza Stark Gene: hnrnpa1 has been classified as Green List (High Evidence).
Mendeliome v0.13699 HNRNPA1 Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426
Mendeliome v0.13698 HNRNPA1 Zornitza Stark Publications for gene: HNRNPA1 were set to
Mendeliome v0.13697 HNRNPA1 Zornitza Stark Mode of inheritance for gene: HNRNPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13696 HNRNPA1 Zornitza Stark reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455423, 34291734; Phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13696 HNF4A Zornitza Stark Gene: hnf4a has been classified as Green List (High Evidence).
Mendeliome v0.13696 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850
Mendeliome v0.13695 HNF4A Zornitza Stark Publications for gene: HNF4A were set to
Mendeliome v0.13694 HNF4A Zornitza Stark Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13693 HNF4A Zornitza Stark reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31875549, 24285859, 22802087, 30005691, 28458902; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13693 HNF1A Zornitza Stark Gene: hnf1a has been classified as Green List (High Evidence).
Mendeliome v0.13693 HNF1A Zornitza Stark Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496
Mendeliome v0.13692 HNF1A Zornitza Stark Publications for gene: HNF1A were set to
Mendeliome v0.13691 HNF1A Zornitza Stark Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13690 HNF1A Zornitza Stark reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9097962, 9112026; Phenotypes: Diabetes mellitus, insulin-dependent, 20, MIM# 612520, MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13690 HMX1 Zornitza Stark Tag SV/CNV tag was added to gene: HMX1.
Mendeliome v0.13690 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Mendeliome v0.13690 HMX1 Zornitza Stark Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109
Mendeliome v0.13689 HMX1 Zornitza Stark Publications for gene: HMX1 were set to
Mendeliome v0.13688 HMX1 Zornitza Stark Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13687 HMX1 Zornitza Stark changed review comment from: Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage.

At least two families and two animal models. Also evidence that duplication of long-range enhancer causes microbial.; to: Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage.

At least two families and two animal models. Also evidence that duplication of long-range enhancer causes microtia.
Mendeliome v0.13687 HMX1 Zornitza Stark reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18423520, 25574057, 33465110, 32552830, 31691317; Phenotypes: Oculoauricular syndrome, MIM#612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13687 COL9A1 Ain Roesley Gene: col9a1 has been classified as Green List (High Evidence).
Mendeliome v0.13687 COL9A1 Ain Roesley Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134
Mendeliome v0.13686 COL9A1 Ain Roesley Publications for gene: COL9A1 were set to
Mendeliome v0.13686 COL9A1 Ain Roesley Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13685 COL9A1 Ain Roesley reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13685 CORIN Ain Roesley Phenotypes for gene: CORIN were changed from to Preeclampsia/eclampsia 5 MIM#614595
Mendeliome v0.13685 CORIN Ain Roesley Publications for gene: CORIN were set to
Mendeliome v0.13684 CORIN Ain Roesley Mode of inheritance for gene: CORIN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13684 CORIN Ain Roesley Classified gene: CORIN as Red List (low evidence)
Mendeliome v0.13684 CORIN Ain Roesley Added comment: Comment on list classification: pre-eclampsia is typically not monogenic
Mendeliome v0.13684 CORIN Ain Roesley Gene: corin has been classified as Red List (Low Evidence).
Mendeliome v0.13683 CORIN Ain Roesley edited their review of gene: CORIN: Changed rating: RED
Mendeliome v0.13683 CORIN Ain Roesley reviewed gene: CORIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 22437503; Phenotypes: Preeclampsia/eclampsia 5 MIM#614595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13683 DUSP6 Krithika Murali changed review comment from: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.

Summary of DUSP6 variants identified in this study
c.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3
c.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual
c.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)
c.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant

No segregation information provided.

PMID: 23643382 - Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism. In 5 unrelated individuals with congenital hypogonadotropic hypogonadism 4 heterozygous missense were identified. In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene. 3 of the 4 variants have subpopulation allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Thr346Met (AJ AF 0.002797), p.Ser182Phe (NFE AF 0.001396), p.Asn189Ser (NFE AF 0.0003641). No functional assays were conducted.

PMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.; to: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.

Summary of DUSP6 variants identified in this study
c.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3
c.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual
c.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)
c.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant

No segregation information provided. Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism.

PMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.
Mendeliome v0.13683 DUSP6 Krithika Murali changed review comment from: 1 study cited by OMIM (Miraoui et al 2013) - heterozygous variants in 5 unrelated individuals with congenital hypogonadotrophic hypogonadism (CHH). 4/5 variants highly prevalent in healthy population and/or in conjunction with variants in other genes either known to be associated with CHH or possibly associated. No additional studies published since this paper.

PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.

Summary of DUSP6 variants identified in this study
c.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3
c.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual
c.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)
c.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant

No segregation information provided.; to: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.

Summary of DUSP6 variants identified in this study
c.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3
c.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual
c.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)
c.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant

No segregation information provided.

PMID: 23643382 - Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism. In 5 unrelated individuals with congenital hypogonadotropic hypogonadism 4 heterozygous missense were identified. In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene. 3 of the 4 variants have subpopulation allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Thr346Met (AJ AF 0.002797), p.Ser182Phe (NFE AF 0.001396), p.Asn189Ser (NFE AF 0.0003641). No functional assays were conducted.

PMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.
Mendeliome v0.13683 COQ9 Ain Roesley Gene: coq9 has been classified as Green List (High Evidence).
Mendeliome v0.13683 COQ9 Ain Roesley Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Mendeliome v0.13682 DUSP6 Krithika Murali reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13682 COQ9 Ain Roesley Publications for gene: COQ9 were set to
Mendeliome v0.13682 COQ9 Ain Roesley Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13681 COQ9 Ain Roesley reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375058, 26081641, 23255162, 31821167; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13681 COQ8B Ain Roesley Gene: coq8b has been classified as Green List (High Evidence).
Mendeliome v0.13681 COQ8B Ain Roesley Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573
Mendeliome v0.13681 COQ8B Ain Roesley Publications for gene: COQ8B were set to
Mendeliome v0.13681 COQ8B Ain Roesley Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13680 COQ8B Ain Roesley reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24270420; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13680 COQ8A Ain Roesley Gene: coq8a has been classified as Green List (High Evidence).
Mendeliome v0.13680 COQ8A Ain Roesley Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Mendeliome v0.13680 COQ8A Ain Roesley Publications for gene: COQ8A were set to
Mendeliome v0.13680 COQ8A Ain Roesley Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13679 COQ8A Ain Roesley reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13679 COQ7 Ain Roesley Gene: coq7 has been classified as Green List (High Evidence).
Mendeliome v0.13679 COQ7 Ain Roesley Phenotypes for gene: COQ7 were changed from to Coenzyme Q10 deficiency, primary, 8 MIM#616733
Mendeliome v0.13679 COQ7 Ain Roesley Publications for gene: COQ7 were set to
Mendeliome v0.13679 COQ7 Ain Roesley Mode of inheritance for gene: COQ7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13678 COQ7 Ain Roesley reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26084283, 31240163, 33215859, 28409910; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13678 COQ6 Ain Roesley Gene: coq6 has been classified as Green List (High Evidence).
Mendeliome v0.13678 COQ6 Ain Roesley Publications for gene: COQ6 were set to
Mendeliome v0.13678 COQ6 Ain Roesley Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650
Mendeliome v0.13678 COQ6 Ain Roesley Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13677 COQ6 Ain Roesley reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13677 COMP Ain Roesley Publications for gene: COMP were set to
Mendeliome v0.13676 COMP Ain Roesley Phenotypes for gene: COMP were changed from to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Mendeliome v0.13676 COMP Ain Roesley Mode of inheritance for gene: COMP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13675 COMP Ain Roesley Tag STR tag was added to gene: COMP.
Mendeliome v0.13675 COMP Ain Roesley reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301302, 20301660; Phenotypes: Epiphyseal dysplasia, multiple, 1 MIM#132400, Pseudoachondroplasia MIM#177170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13675 COL9A2 Ain Roesley Gene: col9a2 has been classified as Green List (High Evidence).
Mendeliome v0.13675 COL9A2 Ain Roesley Publications for gene: COL9A2 were set to
Mendeliome v0.13675 COL9A2 Ain Roesley Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204
Mendeliome v0.13675 COL9A2 Ain Roesley Mode of inheritance for gene: COL9A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13674 COL9A2 Ain Roesley reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723, 10364514, 15633184, 20358595, 8528240; Phenotypes: Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13674 DYRK1B Krithika Murali reviewed gene: DYRK1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34193236, 34786696, 24827035, 28743892; Phenotypes: Abdominal obesity-metabolic syndrome 3 - MIM#615812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13674 COL6A3 Ain Roesley Gene: col6a3 has been classified as Green List (High Evidence).
Mendeliome v0.13674 COL6A3 Ain Roesley Publications for gene: COL6A3 were set to
Mendeliome v0.13674 COL6A3 Ain Roesley Phenotypes for gene: COL6A3 were changed from to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
Mendeliome v0.13674 COL6A3 Ain Roesley Mode of inheritance for gene: COL6A3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13673 COL6A3 Ain Roesley edited their review of gene: COL6A3: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012
Mendeliome v0.13673 COL6A2 Ain Roesley edited their review of gene: COL6A2: Changed publications: 20301676
Mendeliome v0.13673 COL6A2 Ain Roesley edited their review of gene: COL6A2: Changed publications: 20301676, 26004199, 32037012, 26872670, 32037012
Mendeliome v0.13673 COL6A3 Ain Roesley reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13673 COL6A2 Ain Roesley changed review comment from: GeneReviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL621 accounts for 44-46% of Collagen VI-Related Dystrophies cases; to: GeneReviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL6A2 accounts for 44-46% of Collagen VI-Related Dystrophies cases
Mendeliome v0.13673 COL6A2 Ain Roesley Gene: col6a2 has been classified as Green List (High Evidence).
Mendeliome v0.13673 COL6A2 Ain Roesley Phenotypes for gene: COL6A2 were changed from to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Mendeliome v0.13672 COL6A2 Ain Roesley Publications for gene: COL6A2 were set to
Mendeliome v0.13672 COL6A2 Ain Roesley Mode of inheritance for gene: COL6A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13671 COL6A2 Ain Roesley reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13671 COL6A1 Ain Roesley changed review comment from: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly; to: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly

COL6A1 accounts for 35-38% of Collagen VI-Related Dystrophies cases
Mendeliome v0.13671 COL6A1 Ain Roesley Gene: col6a1 has been classified as Green List (High Evidence).
Mendeliome v0.13671 COL6A1 Ain Roesley Phenotypes for gene: COL6A1 were changed from to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Mendeliome v0.13671 COL6A1 Ain Roesley Publications for gene: COL6A1 were set to
Mendeliome v0.13670 COL6A1 Ain Roesley edited their review of gene: COL6A1: Changed publications: 20301676, 25535305, 15955946, 23738969, 29277723, 24443028; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13670 COL6A1 Ain Roesley Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13669 COL6A1 Ain Roesley changed review comment from: Well established association

Both loss-of-function and dominant negative mechanism has been reported for this gene. Mutations result in a spectrum of disease, ranging from the milder Bethlem myopathy (monoallelic) to the more severe Ullrich congenital muscular dystrophy (biallelic) (PMID: 29277723; 24443028).
Sources: Literature; to: Well established association

Genereviews PMID:20301676

AD variants typically occur near the N terminal of the triple helical (TH) domain, which contains a critical region of 10 to 15 Gly-X-Y triplets; in-frame exon-skipping variants and glycine substitutions in this region tend to result in more severe phenotypes

AR variants are usually nonsense or fs, or biallelic variants located near the C-terminal end of the TH domain, where they will be excluded from assembly
Mendeliome v0.13669 COL6A1 Ain Roesley reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25535305, 15955946, 23738969, 29277723, 24443028; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13669 COL5A2 Ain Roesley Gene: col5a2 has been classified as Green List (High Evidence).
Mendeliome v0.13669 COL5A2 Ain Roesley Publications for gene: COL5A2 were set to
Mendeliome v0.13670 COL5A2 Ain Roesley Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Mendeliome v0.13669 COL5A2 Ain Roesley Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13668 COL5A2 Ain Roesley reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13668 COL4A4 Ain Roesley Gene: col4a4 has been classified as Green List (High Evidence).
Mendeliome v0.13668 COL4A4 Ain Roesley Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200
Mendeliome v0.13667 COL4A4 Ain Roesley Publications for gene: COL4A4 were set to
Mendeliome v0.13667 COL4A4 Ain Roesley Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13666 COL4A4 Ain Roesley reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM#203780, Hematuria, familial benign MIM#141200; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13666 COL4A3 Ain Roesley Gene: col4a3 has been classified as Green List (High Evidence).
Mendeliome v0.13666 COL4A3 Ain Roesley Phenotypes for gene: COL4A3 were changed from to Alport syndrome 2, autosomal recessive, MIM# 203780; Alport syndrome 3, autosomal dominant, MIM# 104200
Mendeliome v0.13666 COL4A3 Ain Roesley Mode of inheritance for gene: COL4A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13665 COL4A3 Ain Roesley reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780, Alport syndrome 3, autosomal dominant, MIM# 104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13665 COL4A2 Ain Roesley Gene: col4a2 has been classified as Green List (High Evidence).
Mendeliome v0.13665 COL4A2 Ain Roesley Publications for gene: COL4A2 were set to
Mendeliome v0.13665 COL4A2 Ain Roesley Phenotypes for gene: COL4A2 were changed from to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483
Mendeliome v0.13665 COL4A2 Ain Roesley Mode of inheritance for gene: COL4A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13664 COL4A2 Ain Roesley reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 33912663, 22209246, 30315939, 22333902; Phenotypes: Cerebral Palsy MONDO#0006497, COL4A2-related, Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13664 COL4A1 Ain Roesley Gene: col4a1 has been classified as Green List (High Evidence).
Mendeliome v0.13664 COL4A1 Ain Roesley Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Mendeliome v0.13663 COL4A1 Ain Roesley Publications for gene: COL4A1 were set to
Mendeliome v0.13663 COL4A1 Ain Roesley Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13662 COL4A1 Ain Roesley reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545, 25719457, 21625620, 23225343, 23065703, 20818663, 20301768; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13662 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13662 HMOX1 Zornitza Stark Phenotypes for gene: HMOX1 were changed from to Heme oxygenase-1 deficiency, MIM# 614034; Asplenia
Mendeliome v0.13661 HMOX1 Zornitza Stark Publications for gene: HMOX1 were set to
Mendeliome v0.13660 HMOX1 Zornitza Stark Mode of inheritance for gene: HMOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13659 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Mendeliome v0.13659 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13658 COL27A1 Ain Roesley edited their review of gene: COL27A1: Changed phenotypes: Steel syndrome MIM #615155
Mendeliome v0.13658 COL27A1 Ain Roesley Gene: col27a1 has been classified as Green List (High Evidence).
Mendeliome v0.13658 COL27A1 Ain Roesley Phenotypes for gene: COL27A1 were changed from to Steel syndrome, MIM #615155
Mendeliome v0.13657 COL27A1 Ain Roesley Publications for gene: COL27A1 were set to
Mendeliome v0.13657 COL27A1 Ain Roesley Mode of inheritance for gene: COL27A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13656 COL27A1 Ain Roesley reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986830, 28276056, 28322503, 32360765, 33963180; Phenotypes: Steel syndrome, OMIM #615155; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13656 COL1A2 Ain Roesley edited their review of gene: COL1A2: Changed phenotypes: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120, Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821, Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320, Osteogenesis imperfecta, type II, MIM# 166210, Osteogenesis imperfecta, type III, MIM# 259420, Osteogenesis imperfecta, type IV, MIM# 166220
Mendeliome v0.13656 COL1A2 Ain Roesley Gene: col1a2 has been classified as Green List (High Evidence).
Mendeliome v0.13656 COL1A2 Ain Roesley Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Mendeliome v0.13655 COL1A2 Ain Roesley Publications for gene: COL1A2 were set to
Mendeliome v0.13654 COL1A2 Ain Roesley Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13653 COL1A2 Ain Roesley reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 32091183, 2993307, 30821104; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821, Ehlers-Danlos syndrome, cardiac valvular type MIM#225320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13653 COL1A1 Ain Roesley changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).; to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

For skeletal phenotypes:
The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).
Mendeliome v0.13653 COL1A1 Ain Roesley changed review comment from: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667); to: COL1A1 is mostly associated with osteogenesis imperfecta however, substitutions of arginine by cysteine in the triple helical domain) have been reported in individuals w/classic EDS & aneurysm & dissection of large vessels (PMID: 20301422;20301667)

The mild forms are usually caused by haploinsufficiency and result in a reduced amount of normal type I collagen, the severe and lethal forms result from dominant negative variants which produce structural defects in the collagen molecule (PMID:12362985).
Mendeliome v0.13653 COL1A1 Ain Roesley Gene: col1a1 has been classified as Green List (High Evidence).
Mendeliome v0.13653 COL1A1 Ain Roesley Publications for gene: COL1A1 were set to
Mendeliome v0.13653 COL1A1 Ain Roesley Phenotypes for gene: COL1A1 were changed from to Caffey disease MIM#114000; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115; Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060; Osteogenesis imperfecta, type I MIM#166200; Osteogenesis imperfecta, type II MIM#166210; Osteogenesis imperfecta, type III MIM#259420; Osteogenesis imperfecta, type IV MIM#166220
Mendeliome v0.13653 COL1A1 Ain Roesley Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13652 COL1A1 Ain Roesley reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301422, 20301667, 30071989, 28981071, 12362985, 28956891; Phenotypes: Caffey disease MIM#114000, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115, Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060, Osteogenesis imperfecta, type I MIM#166200, Osteogenesis imperfecta, type II MIM#166210, Osteogenesis imperfecta, type III MIM#259420, Osteogenesis imperfecta, type IV MIM#166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13652 COL18A1 Ain Roesley Gene: col18a1 has been classified as Green List (High Evidence).
Mendeliome v0.13652 COL18A1 Ain Roesley Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750
Mendeliome v0.13651 COL18A1 Ain Roesley Publications for gene: COL18A1 were set to
Mendeliome v0.13651 COL18A1 Ain Roesley Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13651 COL18A1 Ain Roesley Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13650 COL18A1 Ain Roesley reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167, 25456301; Phenotypes: Knobloch syndrome, type 1, MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13650 COL17A1 Ain Roesley Gene: col17a1 has been classified as Green List (High Evidence).
Mendeliome v0.13650 COL17A1 Ain Roesley Publications for gene: COL17A1 were set to
Mendeliome v0.13650 COL17A1 Ain Roesley Phenotypes for gene: COL17A1 were changed from to Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Epithelial recurrent erosion dystrophy MIM#122400
Mendeliome v0.13650 COL17A1 Ain Roesley Mode of inheritance for gene: COL17A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13649 COL17A1 Ain Roesley commented on gene: COL17A1: For Epithelial recurrent erosion dystrophy, AD:
Multiple families reported, c.3156C>T is recurrent.

For EB, AR:
well established association (GeneReviews PMID:20301304)
Mendeliome v0.13649 COL17A1 Ain Roesley reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27309958, 29708937, 25676728, 20301304; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787, Epithelial recurrent erosion dystrophy MIM#122400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13649 COL12A1 Ain Roesley Gene: col12a1 has been classified as Green List (High Evidence).
Mendeliome v0.13649 COL12A1 Ain Roesley Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604
Mendeliome v0.13648 COL12A1 Ain Roesley Publications for gene: COL12A1 were set to
Mendeliome v0.13648 COL12A1 Ain Roesley Phenotypes for gene: COL12A1 were changed from to Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470
Mendeliome v0.13648 COL12A1 Ain Roesley Mode of inheritance for gene: COL12A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13647 COL12A1 Ain Roesley reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 31273343, 24334604; Phenotypes: Myopathic EDS, Bethlem myopathy 2 MIM#616471, Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13647 COL11A2 Ain Roesley Gene: col11a2 has been classified as Green List (High Evidence).
Mendeliome v0.13647 COL11A2 Ain Roesley Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3; Deafness, autosomal dominant 13 MIM#601868; Deafness, autosomal recessive 53 MIM#609706; Fibrochondrogenesis 2 MIM#614524; Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
Mendeliome v0.13646 COL11A2 Ain Roesley Publications for gene: COL11A2 were set to
Mendeliome v0.13646 COL11A2 Ain Roesley Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13645 COL11A2 Ain Roesley reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3, Deafness, autosomal dominant 13 MIM#601868, Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13645 COG7 Ain Roesley Gene: cog7 has been classified as Green List (High Evidence).
Mendeliome v0.13645 COG7 Ain Roesley Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779
Mendeliome v0.13644 COG7 Ain Roesley Publications for gene: COG7 were set to
Mendeliome v0.13644 COG7 Ain Roesley Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13643 COG7 Ain Roesley reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13643 COASY Ain Roesley Gene: coasy has been classified as Green List (High Evidence).
Mendeliome v0.13643 COASY Ain Roesley Publications for gene: COASY were set to
Mendeliome v0.13643 COASY Ain Roesley Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#v618266
Mendeliome v0.13643 COASY Ain Roesley Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13642 COASY Ain Roesley changed review comment from: Green for both NBIA and PCH; to: Green for both NBIA and PCH

only 2 variants reported for PCH - a fs (c.1549_1550delAG) and c.1486-3C>G (Recurrent)
Mendeliome v0.13642 COASY Ain Roesley reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 28489334, 24360804, 35499143; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#v618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13642 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Mendeliome v0.13642 HMBS Zornitza Stark Phenotypes for gene: HMBS were changed from to Porphyria, acute intermittent, MIM#176000; Porphyria, acute intermittent, non-erythroid variant, MIM#176000
Mendeliome v0.13641 HMBS Zornitza Stark Mode of inheritance for gene: HMBS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13640 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute intermittent, MIM#176000, Porphyria, acute intermittent, non-erythroid variant, MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13640 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mendeliome v0.13640 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from to Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Haemolytic anaemia due to hexokinase deficiency, MIM# 235700; Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547; Retinitis pigmentosa 79, MIM# 617460
Mendeliome v0.13639 HK1 Zornitza Stark Publications for gene: HK1 were set to
Mendeliome v0.13638 HK1 Zornitza Stark Mode of inheritance for gene: HK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13637 HK1 Zornitza Stark changed review comment from: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.

Note gene is associated with other phenotypes.; to: Bi-allelic variants and neuropathy: HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy.

Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.

Note gene is associated with other phenotypes.
Mendeliome v0.13637 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: Mono-allelic variants and ID: PMID30778173, 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1

Mono-allelic variants and RP: Seven families reported with the same heterozygous missense variant, p.Glu847Lys and RP from different ethnicities. Some supportive evidence. Variant is present in 3 hets in gnomad.

Bi-allelic variants and haemolytic anaemia: more than 10 families reported.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571; Changed phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13637 GNAI1 Zornitza Stark Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Mendeliome v0.13636 GNAI1 Zornitza Stark edited their review of gene: GNAI1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Mendeliome v0.13636 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Mendeliome v0.13636 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794; Retinitis pigmentosa 87 with choroidal involvement MIM#618697
Mendeliome v0.13635 RPE65 Zornitza Stark Publications for gene: RPE65 were set to
Mendeliome v0.13634 RPE65 Zornitza Stark Mode of inheritance for gene: RPE65 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13633 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Green List (High Evidence).
Mendeliome v0.13633 SLC24A1 Zornitza Stark Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450
Mendeliome v0.13632 SLC24A1 Zornitza Stark Publications for gene: SLC24A1 were set to
Mendeliome v0.13631 SLC24A1 Zornitza Stark Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13630 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Mendeliome v0.13630 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Mendeliome v0.13629 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Mendeliome v0.13628 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13627 RRAS Zornitza Stark Gene: rras has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13627 RRAS Zornitza Stark Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997
Mendeliome v0.13626 RRAS Zornitza Stark Publications for gene: RRAS were set to
Mendeliome v0.13625 RRAS Zornitza Stark Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13624 RRAS Zornitza Stark Classified gene: RRAS as Amber List (moderate evidence)
Mendeliome v0.13624 RRAS Zornitza Stark Gene: rras has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13623 RRAS Zornitza Stark reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 24705357; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13623 SLC11A1 Zornitza Stark Gene: slc11a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13623 SLC11A1 Zornitza Stark Phenotypes for gene: SLC11A1 were changed from to {Buruli ulcer, susceptibility to}, MIM#610446; {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948
Mendeliome v0.13622 SLC11A1 Zornitza Stark Mode of inheritance for gene: SLC11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13621 SLC11A1 Zornitza Stark Publications for gene: SLC11A1 were set to
Mendeliome v0.13620 SLC11A1 Zornitza Stark Classified gene: SLC11A1 as Red List (low evidence)
Mendeliome v0.13620 SLC11A1 Zornitza Stark Gene: slc11a1 has been classified as Red List (Low Evidence).
Mendeliome v0.13619 LIPT2 Zornitza Stark commented on gene: LIPT2: Three individuals from two unrelated families, functional data.
Mendeliome v0.13619 LIPT2 Zornitza Stark edited their review of gene: LIPT2: Changed publications: 28757203
Mendeliome v0.13619 LIPT2 Zornitza Stark reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13619 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Mendeliome v0.13619 SIL1 Zornitza Stark Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, MIM#248800; MONDO#0009567
Mendeliome v0.13618 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Mendeliome v0.13617 SIL1 Zornitza Stark Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed phenotypes: Hepatic lipase deficiency, MIM# 614025, Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447
Mendeliome v0.13616 LIPC Zornitza Stark edited their review of gene: LIPC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13616 LIPC Zornitza Stark reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13616 RPE65 Belinda Chong reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 14962443, 12960219, 11786058, 21654732, 27307694, 9501220, 16754667, 15557452; Phenotypes: Leber congenital amaurosis 2 MIM#204100, Retinitis pigmentosa 20 MIM#613794, Retinitis pigmentosa 87 with choroidal involvement MIM#618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13616 SLC24A1 Manny Jacobs reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35486108, 35446361, 20850105, 26822852; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13616 SIK1 Zornitza Stark Gene: sik1 has been classified as Green List (High Evidence).
Mendeliome v0.13616 SIK1 Zornitza Stark Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062
Mendeliome v0.13615 SIK1 Zornitza Stark Publications for gene: SIK1 were set to
Mendeliome v0.13614 SIK1 Zornitza Stark Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13613 SLC25A1 Manny Jacobs reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13613 RRAS Belinda Chong edited their review of gene: RRAS: Changed rating: AMBER
Mendeliome v0.13613 RRAS Belinda Chong changed review comment from: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.

Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).; to: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.

Two individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).
Mendeliome v0.13613 RRAS Belinda Chong reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13613 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Mendeliome v0.13613 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Mendeliome v0.13612 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Mendeliome v0.13611 HIBCH Zornitza Stark Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13610 HIBCH Zornitza Stark reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13610 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Mendeliome v0.13610 HGF Zornitza Stark Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265
Mendeliome v0.13609 HGF Zornitza Stark Publications for gene: HGF were set to
Mendeliome v0.13608 HGF Zornitza Stark Mode of inheritance for gene: HGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13607 HGF Zornitza Stark Tag deep intronic tag was added to gene: HGF.
Tag founder tag was added to gene: HGF.
Mendeliome v0.13607 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13607 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Mendeliome v0.13607 HGD Zornitza Stark Phenotypes for gene: HGD were changed from to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Mendeliome v0.13606 HGD Zornitza Stark Publications for gene: HGD were set to
Mendeliome v0.13605 HGD Zornitza Stark Mode of inheritance for gene: HGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13604 HFE Zornitza Stark Gene: hfe has been classified as Green List (High Evidence).
Mendeliome v0.13604 HFE Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200
Mendeliome v0.13603 HFE Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13602 HFE Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13602 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Mendeliome v0.13602 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Growth hormone deficiency with pituitary anomalies, MIM#182230; Pituitary hormone deficiency, combined, 5, MIM#182230; Septooptic dysplasia, MIM#182230
Mendeliome v0.13601 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13600 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency with pituitary anomalies, MIM#182230, Pituitary hormone deficiency, combined, 5, MIM#182230, Septooptic dysplasia, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13600 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome to {Autism, susceptibility to, 18} 615032; Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Mendeliome v0.13599 CHD8 Zornitza Stark edited their review of gene: CHD8: Changed phenotypes: {Autism, susceptibility to, 18} 615032, Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Mendeliome v0.13599 SLC11A1 Samantha Ayres reviewed gene: SLC11A1: Rating: RED; Mode of pathogenicity: None; Publications: 35140349; Phenotypes: {Buruli ulcer, susceptibility to}, MIM#610446, {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948; Mode of inheritance: Unknown
Mendeliome v0.13599 HERC1 Zornitza Stark Gene: herc1 has been classified as Green List (High Evidence).
Mendeliome v0.13599 HERC1 Zornitza Stark Phenotypes for gene: HERC1 were changed from to Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011
Mendeliome v0.13598 HERC1 Zornitza Stark Publications for gene: HERC1 were set to
Mendeliome v0.13597 HERC1 Zornitza Stark Mode of inheritance for gene: HERC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13596 HERC1 Zornitza Stark reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28323226, 27108999, 26153217, 26138117, 20041218; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13596 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Mendeliome v0.13596 HEPACAM Zornitza Stark Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926
Mendeliome v0.13595 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Mendeliome v0.13594 HEPACAM Zornitza Stark Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13593 HEPACAM Zornitza Stark reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13593 LIPT2 Alison Yeung Marked gene: LIPT2 as ready
Mendeliome v0.13593 LIPT2 Alison Yeung Gene: lipt2 has been classified as Green List (High Evidence).
Mendeliome v0.13593 LIPT2 Alison Yeung Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668
Mendeliome v0.13592 SIL1 Samantha Ayres reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800, MONDO#0009567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13592 DNASE2 Zornitza Stark Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Mendeliome v0.13591 DNASE2 Zornitza Stark edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopenia syndrome, MIM# 619858
Mendeliome v0.13591 LIPT2 Alison Yeung Publications for gene: LIPT2 were set to
Mendeliome v0.13590 LIPT2 Alison Yeung Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13589 LIPH Alison Yeung Gene: liph has been classified as Green List (High Evidence).
Mendeliome v0.13589 LIPH Alison Yeung Phenotypes for gene: LIPH were changed from to Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379
Mendeliome v0.13588 LIPH Alison Yeung reviewed gene: LIPH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379, Hypotrichosis 7, MIM# 604379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13588 LIPH Alison Yeung Mode of inheritance for gene: LIPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13587 LIPC Alison Yeung Gene: lipc has been classified as Green List (High Evidence).
Mendeliome v0.13587 LIPC Alison Yeung Phenotypes for gene: LIPC were changed from to Hepatic lipase deficiency MIM#614025; Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533
Mendeliome v0.13586 LIPC Alison Yeung Publications for gene: LIPC were set to
Mendeliome v0.13585 LIPC Alison Yeung Added comment: Comment on mode of inheritance: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Mendeliome v0.13585 LIPC Alison Yeung Mode of inheritance for gene: LIPC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13584 LINS1 Alison Yeung Mode of inheritance for gene: LINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13583 LINS1 Alison Yeung Gene: lins1 has been classified as Green List (High Evidence).
Mendeliome v0.13583 LINS1 Alison Yeung Phenotypes for gene: LINS1 were changed from to Intellectual developmental disorder, autosomal recessive 27, MIM# 614340
Mendeliome v0.13582 LINS1 Alison Yeung Publications for gene: LINS1 were set to
Mendeliome v0.13581 HCRT Zornitza Stark Marked gene: HCRT as ready
Mendeliome v0.13581 HCRT Zornitza Stark Gene: hcrt has been classified as Red List (Low Evidence).
Mendeliome v0.13581 HCRT Zornitza Stark Phenotypes for gene: HCRT were changed from to Narcolepsy 1 , MIM# 161400
Mendeliome v0.13580 HCRT Zornitza Stark Publications for gene: HCRT were set to
Mendeliome v0.13579 HCRT Zornitza Stark Mode of inheritance for gene: HCRT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13578 HCRT Zornitza Stark Classified gene: HCRT as Red List (low evidence)
Mendeliome v0.13578 HCRT Zornitza Stark Gene: hcrt has been classified as Red List (Low Evidence).
Mendeliome v0.13577 LIM2 Alison Yeung Gene: lim2 has been classified as Green List (High Evidence).
Mendeliome v0.13577 HCRT Zornitza Stark reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: None; Publications: 10973318, 11148249, 11723284; Phenotypes: Narcolepsy 1 , MIM# 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13577 LIM2 Alison Yeung Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277
Mendeliome v0.13576 LIM2 Alison Yeung Publications for gene: LIM2 were set to
Mendeliome v0.13575 LIM2 Alison Yeung Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13574 LIM2 Alison Yeung reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13574 HCN1 Zornitza Stark Gene: hcn1 has been classified as Green List (High Evidence).
Mendeliome v0.13574 HCN1 Zornitza Stark Phenotypes for gene: HCN1 were changed from to Developmental and epileptic encephalopathy 24, MIM# 615871; Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482
Mendeliome v0.13573 HCN1 Zornitza Stark Publications for gene: HCN1 were set to
Mendeliome v0.13572 HCN1 Zornitza Stark Mode of inheritance for gene: HCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13571 HCN1 Zornitza Stark reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24747641, 30351409, 30351409; Phenotypes: Developmental and epileptic encephalopathy 24, MIM# 615871, Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13571 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Mendeliome v0.13571 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Mendeliome v0.13570 HCCS Zornitza Stark Publications for gene: HCCS were set to
Mendeliome v0.13569 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13568 HCCS Zornitza Stark reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13568 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Mendeliome v0.13568 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131
Mendeliome v0.13567 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA2 Zornitza Stark Tag SV/CNV tag was added to gene: HBA2.
Mendeliome v0.13566 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anaemia, MIM# 140700, Haemoglobin H disease, deletional and nondeletional, MIM# 613978, Thalassaemia, alpha-, MIM# 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA1 Zornitza Stark edited their review of gene: HBA1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13566 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13565 HBA1 Zornitza Stark Tag SV/CNV tag was added to gene: HBA1.
Mendeliome v0.13565 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Mendeliome v0.13565 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978
Mendeliome v0.13564 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13563 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Erythrocytosis 7, MIM# 617981, Heinz body anemias, alpha-, MIM# 140700, Methemoglobinemia, alpha type , MIM#617973, Thalassemias, alpha-, MIM# 604131, Hemoglobin H disease, nondeletional, MIM# 613978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13563 HAO1 Zornitza Stark Gene: hao1 has been classified as Red List (Low Evidence).
Mendeliome v0.13563 HAO1 Zornitza Stark Classified gene: HAO1 as Red List (low evidence)
Mendeliome v0.13563 HAO1 Zornitza Stark Gene: hao1 has been classified as Red List (Low Evidence).
Mendeliome v0.13562 HAO1 Zornitza Stark reviewed gene: HAO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13562 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Mendeliome v0.13562 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from to Haemochromatosis, type 2B, MIM# 613313
Mendeliome v0.13561 HAMP Zornitza Stark Publications for gene: HAMP were set to
Mendeliome v0.13560 HAMP Zornitza Stark Mode of inheritance for gene: HAMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13559 HAMP Zornitza Stark reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 34828384, 15198949; Phenotypes: Haemochromatosis, type 2B, MIM# 613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13559 HADHB Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence).
Mendeliome v0.13559 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015
Mendeliome v0.13558 HADHB Zornitza Stark Publications for gene: HADHB were set to
Mendeliome v0.13557 HADHB Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13556 HADHB Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13556 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Mendeliome v0.13556 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016; MONDO:0012173
Mendeliome v0.13555 HADHA Zornitza Stark Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13554 HADHA Zornitza Stark edited their review of gene: HADHA: Changed phenotypes: LCHAD deficiency, MIM# 609016, MONDO:0012173
Mendeliome v0.13554 HADHA Zornitza Stark reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13554 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Mendeliome v0.13554 HADH Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
Mendeliome v0.13553 HADH Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13552 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13552 HACD1 Zornitza Stark Gene: hacd1 has been classified as Green List (High Evidence).
Mendeliome v0.13552 HACD1 Zornitza Stark Phenotypes for gene: HACD1 were changed from to Congenital myopathy, MONDO:0019952
Mendeliome v0.13551 HACD1 Zornitza Stark Publications for gene: HACD1 were set to
Mendeliome v0.13550 HACD1 Zornitza Stark Mode of inheritance for gene: HACD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13549 HACD1 Zornitza Stark reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15829503, 23933735, 32426512; Phenotypes: Congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13549 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Mendeliome v0.13549 HAAO Zornitza Stark Phenotypes for gene: HAAO were changed from to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency
Mendeliome v0.13548 HAAO Zornitza Stark Publications for gene: HAAO were set to
Mendeliome v0.13547 HAAO Zornitza Stark Mode of inheritance for gene: HAAO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13546 H6PD Zornitza Stark Gene: h6pd has been classified as Green List (High Evidence).
Mendeliome v0.13546 H6PD Zornitza Stark Phenotypes for gene: H6PD were changed from to Cortisone reductase deficiency 1, MIM# 604931
Mendeliome v0.13545 H6PD Zornitza Stark Publications for gene: H6PD were set to
Mendeliome v0.13544 H6PD Zornitza Stark Mode of inheritance for gene: H6PD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13543 H6PD Zornitza Stark reviewed gene: H6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18628520; Phenotypes: Cortisone reductase deficiency 1, MIM# 604931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13543 SIK1 Samantha Ayres reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13543 BUD23 Zornitza Stark Gene: bud23 has been classified as Red List (Low Evidence).
Mendeliome v0.13543 BUD23 Zornitza Stark Classified gene: BUD23 as Red List (low evidence)
Mendeliome v0.13543 BUD23 Zornitza Stark Gene: bud23 has been classified as Red List (Low Evidence).
Mendeliome v0.13542 BUD23 Zornitza Stark reviewed gene: BUD23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13542 BTNL2 Zornitza Stark Marked gene: BTNL2 as ready
Mendeliome v0.13542 BTNL2 Zornitza Stark Gene: btnl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13542 BTNL2 Zornitza Stark Phenotypes for gene: BTNL2 were changed from to {Sarcoidosis, susceptibility to, 2} 612387
Mendeliome v0.13541 BTNL2 Zornitza Stark Mode of inheritance for gene: BTNL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13540 BTNL2 Zornitza Stark Classified gene: BTNL2 as Red List (low evidence)
Mendeliome v0.13540 BTNL2 Zornitza Stark Gene: btnl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13539 BTNL2 Zornitza Stark reviewed gene: BTNL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Sarcoidosis, susceptibility to, 2} 612387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13539 BTK Zornitza Stark Marked gene: BTK as ready
Mendeliome v0.13539 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Mendeliome v0.13539 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to Agammaglobulinaemia, X-linked 1, MIM# 300755; Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Mendeliome v0.13538 BTK Zornitza Stark Publications for gene: BTK were set to
Mendeliome v0.13537 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13536 BTK Zornitza Stark commented on gene: BTK: Well established gene-disease association with agammaglobulinaemia, >100 families reported.

At least 3 families reported with GH deficiency plus agammaglobulinaemia.
Mendeliome v0.13536 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13536 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Mendeliome v0.13536 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Mendeliome v0.13535 BRIP1 Zornitza Stark Publications for gene: BRIP1 were set to
Mendeliome v0.13534 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13533 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13533 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Mendeliome v0.13533 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Mendeliome v0.13532 BRAF Zornitza Stark Publications for gene: BRAF were set to
Mendeliome v0.13531 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13530 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13529 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13529 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13529 BPGM Zornitza Stark Phenotypes for gene: BPGM were changed from to Erythrocytosis, familial, 8, MIM# 222800
Mendeliome v0.13528 BPGM Zornitza Stark Publications for gene: BPGM were set to
Mendeliome v0.13527 BPGM Zornitza Stark Mode of inheritance for gene: BPGM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13526 BPGM Zornitza Stark Classified gene: BPGM as Amber List (moderate evidence)
Mendeliome v0.13526 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13525 BPGM Zornitza Stark reviewed gene: BPGM: Rating: AMBER; Mode of pathogenicity: None; Publications: 1421379, 27651169, 25015942; Phenotypes: Erythrocytosis, familial, 8, MIM# 222800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13525 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence).
Mendeliome v0.13525 BMPR1A Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900
Mendeliome v0.13524 BMPR1A Zornitza Stark Publications for gene: BMPR1A were set to
Mendeliome v0.13523 BMPR1A Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13522 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381269; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13522 BLVRA Zornitza Stark Gene: blvra has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13522 BLVRA Zornitza Stark Phenotypes for gene: BLVRA were changed from to Hyperbiliverdinaemia , MIM#614156
Mendeliome v0.13521 BLVRA Zornitza Stark Publications for gene: BLVRA were set to
Mendeliome v0.13520 BLVRA Zornitza Stark Mode of inheritance for gene: BLVRA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13519 BLVRA Zornitza Stark Classified gene: BLVRA as Amber List (moderate evidence)
Mendeliome v0.13519 BLVRA Zornitza Stark Gene: blvra has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13518 BLVRA Zornitza Stark reviewed gene: BLVRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19580635, 21278388; Phenotypes: Hyperbiliverdinaemia , MIM#614156; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13518 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13518 BLK Zornitza Stark Phenotypes for gene: BLK were changed from to Common variable immunodeficiency, MONDO:0015517
Mendeliome v0.13517 BLK Zornitza Stark Publications for gene: BLK were set to
Mendeliome v0.13516 BLK Zornitza Stark Mode of inheritance for gene: BLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13515 BLK Zornitza Stark Classified gene: BLK as Amber List (moderate evidence)
Mendeliome v0.13515 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13514 BLK Zornitza Stark reviewed gene: BLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25926555; Phenotypes: Common variable immunodeficiency, MONDO:0015517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13514 BHLHE41 Zornitza Stark Gene: bhlhe41 has been classified as Red List (Low Evidence).
Mendeliome v0.13514 BHLHE41 Zornitza Stark Phenotypes for gene: BHLHE41 were changed from to [Short sleep, familial natural, 1] 612975
Mendeliome v0.13513 BHLHE41 Zornitza Stark Mode of inheritance for gene: BHLHE41 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13512 BHLHE41 Zornitza Stark Classified gene: BHLHE41 as Red List (low evidence)
Mendeliome v0.13512 BHLHE41 Zornitza Stark Gene: bhlhe41 has been classified as Red List (Low Evidence).
Mendeliome v0.13511 BHLHE41 Zornitza Stark reviewed gene: BHLHE41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Short sleep, familial natural, 1] 612975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13511 BFSP1 Zornitza Stark Gene: bfsp1 has been classified as Green List (High Evidence).
Mendeliome v0.13511 BFSP1 Zornitza Stark Phenotypes for gene: BFSP1 were changed from to Cataract 33, multiple types, MIM# 611391
Mendeliome v0.13510 BFSP1 Zornitza Stark Publications for gene: BFSP1 were set to
Mendeliome v0.13509 BFSP1 Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13508 BFSP1 Zornitza Stark reviewed gene: BFSP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17225135, 26694549, 24379646, 28450710, 31842807, 26694549; Phenotypes: Cataract 33, multiple types, MIM# 611391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13508 BCL2 Zornitza Stark Gene: bcl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13508 BCL2 Zornitza Stark Classified gene: BCL2 as Red List (low evidence)
Mendeliome v0.13508 BCL2 Zornitza Stark Gene: bcl2 has been classified as Red List (Low Evidence).
Mendeliome v0.13507 BCL2 Zornitza Stark reviewed gene: BCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13507 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Mendeliome v0.13507 BCKDK Zornitza Stark Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism
Mendeliome v0.13506 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Mendeliome v0.13505 BCKDK Zornitza Stark Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13504 BCL10 Zornitza Stark Gene: bcl10 has been classified as Green List (High Evidence).
Mendeliome v0.13504 BCL10 Zornitza Stark Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098
Mendeliome v0.13503 BCL10 Zornitza Stark Publications for gene: BCL10 were set to
Mendeliome v0.13502 BCL10 Zornitza Stark Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13501 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
Mendeliome v0.13501 BCHE Zornitza Stark Phenotypes for gene: BCHE were changed from to Butyrylcholinesterase deficiency, MIM# 617936
Mendeliome v0.13500 BCHE Zornitza Stark Mode of inheritance for gene: BCHE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13499 BCHE Zornitza Stark reviewed gene: BCHE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13499 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Mendeliome v0.13499 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981; Retinitis pigmentosa 74, MIM# 616562
Mendeliome v0.13498 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Mendeliome v0.13497 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13496 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Mendeliome v0.13496 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Mendeliome v0.13495 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Mendeliome v0.13494 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13493 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Mendeliome v0.13493 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Mendeliome v0.13492 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Mendeliome v0.13491 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13490 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Mendeliome v0.13490 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Mendeliome v0.13489 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Mendeliome v0.13488 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13487 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Mendeliome v0.13487 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954
Mendeliome v0.13486 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Mendeliome v0.13485 BAG3 Zornitza Stark Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13484 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203, 25208129, 32453099, 22734908; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, Myopathy, myofibrillar, 6, MIM# 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13484 BACH2 Zornitza Stark Deleted their comment
Mendeliome v0.13484 BACH2 Zornitza Stark commented on gene: BACH2: Two families and a mouse model.
Mendeliome v0.13484 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Mendeliome v0.13484 BACH2 Zornitza Stark Phenotypes for gene: BACH2 were changed from to Immunodeficiency 60 and autoimmunity, MIM# 618394
Mendeliome v0.13483 BACH2 Zornitza Stark Publications for gene: BACH2 were set to
Mendeliome v0.13482 BACH2 Zornitza Stark Mode of inheritance for gene: BACH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13481 BACH2 Zornitza Stark reviewed gene: BACH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530713; Phenotypes: Immunodeficiency 60 and autoimmunity, MIM# 618394; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13481 B4GALT1 Zornitza Stark Marked gene: B4GALT1 as ready
Mendeliome v0.13481 B4GALT1 Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence).
Mendeliome v0.13481 B4GALT1 Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091
Mendeliome v0.13480 B4GALT1 Zornitza Stark Publications for gene: B4GALT1 were set to
Mendeliome v0.13479 B4GALT1 Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13478 B4GALT1 Zornitza Stark changed review comment from: Intellectual disability is part of CDG, although non-neurological forms of this CDG have been described.
Sources: Expert list; to: At least 3 unrelated families.
Sources: Expert list
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence).
Mendeliome v0.13478 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195)
Mendeliome v0.13477 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to 23746551 24103911
Mendeliome v0.13476 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Mendeliome v0.13475 B4GALNT1 Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13474 B4GALNT1 Zornitza Stark reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13474 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Mendeliome v0.13474 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Mendeliome v0.13474 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM#261540
Mendeliome v0.13473 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Mendeliome v0.13472 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13471 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18798333, 19796186, 32533185, 32204707, 31795264; Phenotypes: Peters-plus syndrome, MIM#261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13471 APOA5 Zornitza Stark Gene: apoa5 has been classified as Green List (High Evidence).
Mendeliome v0.13471 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, MIM#304340 to Pettigrew syndrome, MIM# 304340
Mendeliome v0.13470 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Mendeliome v0.13469 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13469 APCDD1 Zornitza Stark Gene: apcdd1 has been classified as Green List (High Evidence).
Mendeliome v0.13469 APCDD1 Zornitza Stark Phenotypes for gene: APCDD1 were changed from to Hypotrichosis 1, MIM#605389
Mendeliome v0.13468 APCDD1 Zornitza Stark Publications for gene: APCDD1 were set to
Mendeliome v0.13467 APCDD1 Zornitza Stark Mode of inheritance for gene: APCDD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13466 APCDD1 Zornitza Stark reviewed gene: APCDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 1, MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13466 ANO10 Zornitza Stark Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
Mendeliome v0.13465 ANO10 Zornitza Stark Publications for gene: ANO10 were set to
Mendeliome v0.13464 ANO10 Zornitza Stark reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092923, 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13464 PHOX2B Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence).
Mendeliome v0.13464 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880; Neuroblastoma with Hirschsprung disease - MIM#613013
Mendeliome v0.13463 PHOX2B Zornitza Stark Publications for gene: PHOX2B were set to
Mendeliome v0.13462 PHOX2B Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13461 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Mendeliome v0.13461 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872; Peroxisome biogenesis disorder 7B - MIM#614873
Mendeliome v0.13460 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Mendeliome v0.13459 PEX26 Zornitza Stark Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13458 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Mendeliome v0.13458 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866; Peroxisome biogenesis disorder 5B - MIM#614867
Mendeliome v0.13457 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Mendeliome v0.13456 PEX2 Zornitza Stark Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13455 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Mendeliome v0.13455 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Mendeliome v0.13454 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Mendeliome v0.13454 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876; Peroxisome biogenesis disorder 8B - MIM#614877
Mendeliome v0.13453 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Mendeliome v0.13452 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13451 PEX14 Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence).
Mendeliome v0.13451 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887
Mendeliome v0.13450 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Mendeliome v0.13449 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13448 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Mendeliome v0.13448 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883; Peroxisome biogenesis disorder 11B - MIM#614885
Mendeliome v0.13447 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13446 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Mendeliome v0.13446 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510
Mendeliome v0.13445 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13444 ENTPD1 Zornitza Stark Publications for gene: ENTPD1 were set to 24482476; 30652007
Mendeliome v0.13443 ENTPD1 Zornitza Stark commented on gene: ENTPD1: PMID 35471564: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia.
Mendeliome v0.13443 ENTPD1 Zornitza Stark edited their review of gene: ENTPD1: Changed publications: 24482476, 30652007, 35471564
Mendeliome v0.13443 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Mendeliome v0.13443 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 MIM#615481
Mendeliome v0.13442 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Mendeliome v0.13441 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13440 CLEC7A Zornitza Stark Mode of inheritance for gene: CLEC7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13439 APOA5 Elena Savva Mode of inheritance for gene: APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13438 APOA5 Elena Savva Phenotypes for gene: APOA5 were changed from to Hyperchylomicronemia, late-onset MIM#144650; {Hypertriglyceridemia, susceptibility to} MIM#145750
Mendeliome v0.13438 APOA5 Elena Savva Publications for gene: APOA5 were set to PMID: 19447388; 16200213; 11588264
Mendeliome v0.13438 APOA5 Elena Savva Publications for gene: APOA5 were set to
Mendeliome v0.13438 APOA5 Elena Savva Mode of inheritance for gene: APOA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13437 APOA5 Elena Savva reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19447388, 16200213, 11588264; Phenotypes: Hyperchylomicronemia, late-onset MIM#144650, {Hypertriglyceridemia, susceptibility to} MIM#145750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13437 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Mendeliome v0.13437 APOA2 Elena Savva Phenotypes for gene: APOA2 were changed from to Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of} MIM#143890
Mendeliome v0.13437 APOA2 Elena Savva Publications for gene: APOA2 were set to
Mendeliome v0.13436 APOA2 Elena Savva Mode of inheritance for gene: APOA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13436 APOA2 Elena Savva Classified gene: APOA2 as Red List (low evidence)
Mendeliome v0.13436 APOA2 Elena Savva Gene: apoa2 has been classified as Red List (Low Evidence).
Mendeliome v0.13435 APOA2 Elena Savva reviewed gene: APOA2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12522687, 2107739, 25904114; Phenotypes: Apolipoprotein A-II deficiency, {Hypercholesterolemia, familial, modifier of} MIM#143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13435 APOA1 Elena Savva Gene: apoa1 has been classified as Green List (High Evidence).
Mendeliome v0.13435 APOA1 Elena Savva Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types MIM#105200; Hypoalphalipoproteinemia, primary, 2 MIM#618463; Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836
Mendeliome v0.13435 APOA1 Elena Savva Mode of inheritance for gene: APOA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13434 APOA1 Elena Savva reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, 3 or more types MIM#105200, Hypoalphalipoproteinemia, primary, 2 MIM#618463, Hypoalphalipoproteinemia, primary, 2, intermediate MIM#619836; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13434 AP1S2 Elena Savva Gene: ap1s2 has been classified as Green List (High Evidence).
Mendeliome v0.13434 AP1S2 Elena Savva Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, MIM#304340
Mendeliome v0.13433 AP1S2 Elena Savva Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13432 APCDD1 Elena Savva reviewed gene: APCDD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22512811; Phenotypes: Hypotrichosis 1 MIM#605389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13432 ANO10 Elena Savva Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Mendeliome v0.13431 ANO10 Elena Savva Mode of pathogenicity for gene: ANO10 was changed from to None
Mendeliome v0.13430 ANO10 Elena Savva Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Mendeliome v0.13430 ANO10 Elena Savva Gene: ano10 has been classified as Green List (High Evidence).
Mendeliome v0.13430 ANO10 Elena Savva Mode of inheritance for gene: ANO10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PHOX2B Krithika Murali reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444792; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880, Neuroblastoma with Hirschsprung disease - MIM#613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13429 PEX26 Krithika Murali reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, Peroxisome biogenesis disorder 7B - MIM#614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX2 Krithika Murali reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14630978, 10528859, 23430938, 1546315; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866, Peroxisome biogenesis disorder 5B - MIM#614867; Mode of inheritance: None
Mendeliome v0.13429 PEX19 Krithika Murali reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051604, 20683989, 11883941, 28391327; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX16 Krithika Murali reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 20647552, 12223482, 9837814, 11890679; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876, Peroxisome biogenesis disorder 8B - MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX14 Krithika Murali reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285423, 26627464, 21686775, 15146459; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) - MIM#614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX13 Krithika Murali reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) - MIM#614883, Peroxisome biogenesis disorder 11B - MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 PEX12 Krithika Murali reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13429 DIO1 Zornitza Stark Gene: dio1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13429 DIO1 Zornitza Stark Phenotypes for gene: DIO1 were changed from to Thyroid hormone metabolism, abnormal, 2, MIM# 619855
Mendeliome v0.13428 DIO1 Zornitza Stark Mode of inheritance for gene: DIO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13427 DIO1 Zornitza Stark Classified gene: DIO1 as Amber List (moderate evidence)
Mendeliome v0.13427 DIO1 Zornitza Stark Gene: dio1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13426 DIO1 Zornitza Stark reviewed gene: DIO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone metabolism, abnormal, 2, MIM# 619855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13426 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 to Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840
Mendeliome v0.13425 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to 19896110; 31481326; 28388629
Mendeliome v0.13424 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13423 TUBA8 Zornitza Stark Classified gene: TUBA8 as Amber List (moderate evidence)
Mendeliome v0.13423 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13422 TUBA8 Zornitza Stark changed review comment from: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).; to: Bi-allelic variants and cortical dysplasia: Two families reported initially (PMID 19896110). However, note that mouse model does not have a brain phenotype and WES in the original families identified homozygous, previously reported as pathogenic, LoF variant in SNAP29, which is much more likely to be causative (28388629).
Mendeliome v0.13422 TUBA8 Zornitza Stark edited their review of gene: TUBA8: Added comment: Mono-allelic variants and macrothrombocytopaenia: 6 unrelated individuals with missense variants found in a large cohort of blood donors, some functional data. Individuals were generally asymptomatic.; Changed rating: AMBER; Changed publications: 34704371; Changed phenotypes: Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13422 NRCAM Zornitza Stark Phenotypes for gene: NRCAM were changed from neurodevelopmental disorder, NRCAM-related, MONDO:0700092 to Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833
Mendeliome v0.13421 NRCAM Zornitza Stark reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13421 CDC42BPB Zornitza Stark Phenotypes for gene: CDC42BPB were changed from Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality to Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Mendeliome v0.13420 CDC42BPB Zornitza Stark edited their review of gene: CDC42BPB: Changed phenotypes: Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841
Mendeliome v0.13420 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Mendeliome v0.13420 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370
Mendeliome v0.13419 PEX3 Zornitza Stark Publications for gene: PEX3 were set to
Mendeliome v0.13418 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13417 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942428, 10958759, 10968777, 27557811, 33101983; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882, Peroxisome biogenesis disorder 10B , MIM# 617370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13417 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Mendeliome v0.13417 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716
Mendeliome v0.13416 PEX5 Zornitza Stark Publications for gene: PEX5 were set to
Mendeliome v0.13415 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13414 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7719337, 26220973, 20301621; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110, Peroxisome biogenesis disorder 2B, MIM# 202370, Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13414 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Mendeliome v0.13414 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Mendeliome v0.13413 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Mendeliome v0.13412 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13411 PEX7 Zornitza Stark Deleted their comment
Mendeliome v0.13411 PEX7 Zornitza Stark edited their review of gene: PEX7: Added comment: Well established gene-disease associations.; Changed publications: 11781871, 12522768, 12325024; Changed phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Mendeliome v0.13411 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Mendeliome v0.13411 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from to Glycogen storage disease VII, MIM# 232800
Mendeliome v0.13410 PFKM Zornitza Stark Publications for gene: PFKM were set to
Mendeliome v0.13409 PFKM Zornitza Stark Mode of inheritance for gene: PFKM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13408 PFKM Zornitza Stark reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 2140573, 8444874, 7513946, 7550225; Phenotypes: Glycogen storage disease VII, MIM# 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13408 PGAM2 Zornitza Stark Gene: pgam2 has been classified as Green List (High Evidence).
Mendeliome v0.13408 PGAM2 Zornitza Stark Phenotypes for gene: PGAM2 were changed from to Glycogen storage disease X, MIM# 261670
Mendeliome v0.13407 PGAM2 Zornitza Stark Publications for gene: PGAM2 were set to
Mendeliome v0.13406 PGAM2 Zornitza Stark Mode of inheritance for gene: PGAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13405 PGAM2 Zornitza Stark reviewed gene: PGAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8447317, 34237446, 30310767; Phenotypes: Glycogen storage disease X, MIM# 261670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13405 PHF11 Zornitza Stark Gene: phf11 has been classified as Red List (Low Evidence).
Mendeliome v0.13405 PHF11 Zornitza Stark Classified gene: PHF11 as Red List (low evidence)
Mendeliome v0.13405 PHF11 Zornitza Stark Gene: phf11 has been classified as Red List (Low Evidence).
Mendeliome v0.13404 PHF11 Zornitza Stark reviewed gene: PHF11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13404 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Mendeliome v0.13404 PHIP Zornitza Stark Phenotypes for gene: PHIP were changed from to Chung-Jansen syndrome, MIM# 617991
Mendeliome v0.13403 PHIP Zornitza Stark Publications for gene: PHIP were set to
Mendeliome v0.13402 PHIP Zornitza Stark Mode of inheritance for gene: PHIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13401 PHIP Zornitza Stark changed review comment from: Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity.

More than 20 individuals reported.; to: Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioural abnormalities, dysmorphic features, and obesity.

More than 20 individuals reported.
Mendeliome v0.13401 PHIP Zornitza Stark reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 27900362, 29209020]; Phenotypes: Chung-Jansen syndrome, MIM# 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13401 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
Mendeliome v0.13401 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from to Glycogen storage disease, type IXa1 and a2, MIM# 306000
Mendeliome v0.13400 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
Mendeliome v0.13399 PHKA2 Zornitza Stark Mode of inheritance for gene: PHKA2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13398 PHKA2 Zornitza Stark edited their review of gene: PHKA2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13398 PHKA2 Zornitza Stark reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7711737, 7847371, 8733134; Phenotypes: Glycogen storage disease, type IXa1 and a2, MIM# 306000; Mode of inheritance: None
Mendeliome v0.13398 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Mendeliome v0.13398 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501; CLAPO syndrome, somatic, MIM# 613089; CLOVE syndrome, somatic, MIM# 612918
Mendeliome v0.13397 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13396 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501, CLAPO syndrome, somatic, MIM# 613089, CLOVE syndrome, somatic, MIM# 612918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13396 PISD Zornitza Stark Phenotypes for gene: PISD were changed from to Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities
Mendeliome v0.13395 PISD Zornitza Stark Publications for gene: PISD were set to
Mendeliome v0.13394 PISD Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13393 PISD Zornitza Stark edited their review of gene: PISD: Changed phenotypes: Liberfarb syndrome, MIM# 618889, Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities
Mendeliome v0.13393 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Mendeliome v0.13393 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from to Refsum disease, MIM# 266500
Mendeliome v0.13392 PHYH Zornitza Stark Publications for gene: PHYH were set to
Mendeliome v0.13391 PHYH Zornitza Stark Mode of inheritance for gene: PHYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13390 PHYH Zornitza Stark Deleted their comment
Mendeliome v0.13390 PHYH Zornitza Stark edited their review of gene: PHYH: Added comment: Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells.

Well established gene-disease association.; Changed publications: 9326939, 9326940
Mendeliome v0.13390 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Mendeliome v0.13390 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Mendeliome v0.13389 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Mendeliome v0.13388 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Marden-Walker: 2 families reported.
Mendeliome v0.13387 PIEZO2 Zornitza Stark edited their review of gene: PIEZO2: Changed phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
DA3, more than 10 families reported, R2686H is recurrent.
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA3, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA5, more than 20 families reported.
Mendeliome v0.13387 PIEZO2 Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.; to: Bi-allelic variants: more than 5 unrelated families reported.

Mono-allelic variants:
DA3, more than 20 families reported.
Mendeliome v0.13387 PIEZO2 Zornitza Stark edited their review of gene: PIEZO2: Changed publications: 27653382, 27607563, 27843126, 27974811, 24726473
Mendeliome v0.13387 RSPH1 Belinda Chong reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13387 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27607563, 27843126, 27974811; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13387 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Mendeliome v0.13387 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Neuropathy, distal hereditary motor, type VC, MIM# 619112; Encephalopathy, progressive, with or without lipodystrophy, MIM#615924; Lipodystrophy, congenital generalized, type 2, MIM# 269700; Silver spastic paraplegia syndrome, MIM# 270685; Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062
Mendeliome v0.13386 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Mendeliome v0.13385 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13384 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Added comment: Multiple families reported with bi-allelic variants and isolated or syndromic lipodystrophy.

Mono-allelic variants and DEE: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149; Changed publications: 14981520, 15732094, 11479539, 15181077, 15126564, 23564749, 31369919, 35290466
Mendeliome v0.13384 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed phenotypes: Neuropathy, distal hereditary motor, type VC, MIM# 619112, Encephalopathy, progressive, with or without lipodystrophy, MIM#615924, Lipodystrophy, congenital generalized, type 2, MIM# 269700, Silver spastic paraplegia syndrome, MIM# 270685, Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13384 CNNM2 Ain Roesley Gene: cnnm2 has been classified as Green List (High Evidence).
Mendeliome v0.13384 CNNM2 Ain Roesley Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Mendeliome v0.13383 CNNM2 Ain Roesley Publications for gene: CNNM2 were set to
Mendeliome v0.13383 CNNM2 Ain Roesley Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13382 CNNM2 Ain Roesley reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34604137, 35170241; Phenotypes: Hypomagnesemia 6, renal MIM#613882, Hypomagnesemia, seizures, and mental retardation MIM#616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13382 PIGC Zornitza Stark Gene: pigc has been classified as Green List (High Evidence).
Mendeliome v0.13382 PIGC Zornitza Stark Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816
Mendeliome v0.13381 PIGC Zornitza Stark Publications for gene: PIGC were set to
Mendeliome v0.13380 PIGC Zornitza Stark Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13379 PIGC Zornitza Stark reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27694521, 32707268; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13379 CNGB1 Ain Roesley Gene: cngb1 has been classified as Green List (High Evidence).
Mendeliome v0.13379 CNGB1 Ain Roesley Phenotypes for gene: CNGB1 were changed from to Retinitis pigmentosa 45 MIM#613767
Mendeliome v0.13378 CNGB1 Ain Roesley Publications for gene: CNGB1 were set to
Mendeliome v0.13378 CNGB1 Ain Roesley Mode of inheritance for gene: CNGB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13377 CNGB1 Ain Roesley edited their review of gene: CNGB1: Changed rating: GREEN
Mendeliome v0.13377 CNGB1 Ain Roesley reviewed gene: CNGB1: Rating: ; Mode of pathogenicity: None; Publications: 11379879, 15557452, 23661369, 33847019; Phenotypes: Retinitis pigmentosa 45 MIM#613767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13377 CNGA1 Ain Roesley Gene: cnga1 has been classified as Green List (High Evidence).
Mendeliome v0.13377 CNGA1 Ain Roesley Phenotypes for gene: CNGA1 were changed from to Retinitis pigmentosa 49 MIM#613756
Mendeliome v0.13376 CNGA1 Ain Roesley Publications for gene: CNGA1 were set to
Mendeliome v0.13376 CNGA1 Ain Roesley Mode of inheritance for gene: CNGA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13375 CNGA1 Ain Roesley edited their review of gene: CNGA1: Changed publications: 33633220, 32705276, 30652268, 20301590, 7479749
Mendeliome v0.13375 CNGA1 Ain Roesley reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633220, 32705276, 30652268, 20301590, 7479749]; Phenotypes: Retinitis pigmentosa 49 MIM#613756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13375 CLN8 Ain Roesley Gene: cln8 has been classified as Green List (High Evidence).
Mendeliome v0.13375 CLN8 Ain Roesley Publications for gene: CLN8 were set to
Mendeliome v0.13375 CLN8 Ain Roesley Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Mendeliome v0.13375 CLN8 Ain Roesley Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13374 CLN8 Ain Roesley reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508524, 15024724, 16570191; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13374 CLN6 Ain Roesley Gene: cln6 has been classified as Green List (High Evidence).
Mendeliome v0.13374 CLN6 Ain Roesley Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Mendeliome v0.13373 CLN6 Ain Roesley Publications for gene: CLN6 were set to
Mendeliome v0.13373 CLN6 Ain Roesley Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13372 CLN6 Ain Roesley reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11791207, 11727201, 21549341, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13372 CLEC7A Ain Roesley Gene: clec7a has been classified as Red List (Low Evidence).
Mendeliome v0.13372 CLEC7A Ain Roesley Phenotypes for gene: CLEC7A were changed from to {Aspergillosis, susceptibility to} MIM#614079; candidiasis, familial, 4, autosomal recessive MIM#613108
Mendeliome v0.13371 CLEC7A Ain Roesley Publications for gene: CLEC7A were set to
Mendeliome v0.13371 CLEC7A Ain Roesley Classified gene: CLEC7A as Red List (low evidence)
Mendeliome v0.13371 CLEC7A Ain Roesley Gene: clec7a has been classified as Red List (Low Evidence).
Mendeliome v0.13370 CLEC7A Ain Roesley edited their review of gene: CLEC7A: Changed publications: 19864674, 20807886; Changed phenotypes: {Aspergillosis, susceptibility to} MIM#614079, candidiasis, familial, 4, autosomal recessive MIM#613108; Set current diagnostic: yes
Mendeliome v0.13370 CLEC7A Ain Roesley changed review comment from: Unable to find any mendelian disease association; to: Unable to find any mendelian disease association.

Reports of Tyr238* and it's association with {Aspergillosis, susceptibility to} MIM#614079 leading to candidiasis, familial, 4, autosomal recessive MIM#613108
Mendeliome v0.13370 CLEC7A Ain Roesley reviewed gene: CLEC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13370 PIGW Zornitza Stark Gene: pigw has been classified as Green List (High Evidence).
Mendeliome v0.13370 PIGW Zornitza Stark Phenotypes for gene: PIGW were changed from to Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025
Mendeliome v0.13369 PIGW Zornitza Stark Publications for gene: PIGW were set to
Mendeliome v0.13368 PIGW Zornitza Stark Mode of inheritance for gene: PIGW was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13367 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13367 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Green List (High Evidence).
Mendeliome v0.13367 PIK3R2 Zornitza Stark Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387
Mendeliome v0.13366 PIK3R2 Zornitza Stark Publications for gene: PIK3R2 were set to
Mendeliome v0.13365 PIK3R2 Zornitza Stark Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13364 PIK3R2 Zornitza Stark reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 23745724, 33604570; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13364 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Mendeliome v0.13364 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Mendeliome v0.13364 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500
Mendeliome v0.13363 PITX2 Zornitza Stark Publications for gene: PITX2 were set to
Mendeliome v0.13362 PITX2 Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13361 PITX2 Zornitza Stark reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13361 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Mendeliome v0.13361 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Mendeliome v0.13361 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia MONDO:0021129
Mendeliome v0.13360 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia
Mendeliome v0.13359 PITX3 Zornitza Stark Publications for gene: PITX3 were set to
Mendeliome v0.13358 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13357 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13357 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, MIM#248190 to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Mendeliome v0.13356 CLCNKB Zornitza Stark Tag SV/CNV tag was added to gene: CLCNKB.
Mendeliome v0.13356 PEX11B Zornitza Stark Added comment: Comment when marking as ready: Two published families and one International.
Mendeliome v0.13356 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Mendeliome v0.13356 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920
Mendeliome v0.13355 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Mendeliome v0.13354 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13353 PER2 Zornitza Stark Gene: per2 has been classified as Red List (Low Evidence).
Mendeliome v0.13353 PER2 Zornitza Stark Phenotypes for gene: PER2 were changed from to Advanced sleep phase syndrome, familial, 1 - MIM#604348
Mendeliome v0.13352 PER2 Zornitza Stark Publications for gene: PER2 were set to
Mendeliome v0.13351 PER2 Zornitza Stark Mode of inheritance for gene: PER2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13350 PER2 Zornitza Stark Classified gene: PER2 as Red List (low evidence)
Mendeliome v0.13350 PER2 Zornitza Stark Gene: per2 has been classified as Red List (Low Evidence).
Mendeliome v0.13349 PDZD7 Zornitza Stark Gene: pdzd7 has been classified as Green List (High Evidence).
Mendeliome v0.13349 PDZD7 Zornitza Stark Phenotypes for gene: PDZD7 were changed from to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
Mendeliome v0.13348 PDZD7 Zornitza Stark Publications for gene: PDZD7 were set to
Mendeliome v0.13347 PDZD7 Zornitza Stark Mode of inheritance for gene: PDZD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13346 PDYN Zornitza Stark edited their review of gene: PDYN: Changed rating: GREEN
Mendeliome v0.13346 PDYN Zornitza Stark Added comment: Comment when marking as ready: The presence of some of these variants in the population is concerning. However, functional data also supports gene-disease association.
Mendeliome v0.13346 PDYN Zornitza Stark Gene: pdyn has been classified as Green List (High Evidence).
Mendeliome v0.13346 PDYN Zornitza Stark Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23 - MIM#610245
Mendeliome v0.13345 PDYN Zornitza Stark Publications for gene: PDYN were set to
Mendeliome v0.13344 PDYN Zornitza Stark Mode of inheritance for gene: PDYN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13343 PDGFRA Zornitza Stark Gene: pdgfra has been classified as Green List (High Evidence).
Mendeliome v0.13343 PDGFRA Zornitza Stark Phenotypes for gene: PDGFRA were changed from to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510
Mendeliome v0.13342 PDGFRA Zornitza Stark Publications for gene: PDGFRA were set to
Mendeliome v0.13341 PDGFRA Zornitza Stark Mode of inheritance for gene: PDGFRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13340 RSPH3 Zornitza Stark Gene: rsph3 has been classified as Green List (High Evidence).
Mendeliome v0.13340 RSPH3 Zornitza Stark Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 MIM#616481
Mendeliome v0.13339 RSPH3 Zornitza Stark Publications for gene: RSPH3 were set to
Mendeliome v0.13338 RSPH3 Zornitza Stark Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13337 EIF2AK2 Zornitza Stark edited their review of gene: EIF2AK2: Changed phenotypes: Dystonia 33, MIM# 619687, Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13337 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Mendeliome v0.13337 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11, OMIM#612649
Mendeliome v0.13336 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Mendeliome v0.13335 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13334 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Green List (High Evidence).
Mendeliome v0.13334 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12, MIM#612650
Mendeliome v0.13333 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to
Mendeliome v0.13332 RSPH9 Zornitza Stark Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13331 BVES Zornitza Stark Gene: bves has been classified as Green List (High Evidence).
Mendeliome v0.13331 BVES Zornitza Stark Phenotypes for gene: BVES were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812
Mendeliome v0.13330 FOXA2 Bryony Thompson Phenotypes for gene: FOXA2 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177
Mendeliome v0.13329 BVES Zornitza Stark Publications for gene: BVES were set to
Mendeliome v0.13328 BVES Zornitza Stark Mode of inheritance for gene: BVES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13327 BVES Zornitza Stark changed review comment from: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.; to: PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies: zebrafish model. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.

PMID: 32528171 - 1 patient with limb girdle weakness.

PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.
Mendeliome v0.13327 BVES Zornitza Stark reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364, 32528171, 31119192; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13327 FLII Bryony Thompson Phenotypes for gene: FLII were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021
Mendeliome v0.13326 CLDN19 Ain Roesley edited their review of gene: CLDN19: Changed publications: 17033971, 22422540, 27530400
Mendeliome v0.13326 CLDN19 Ain Roesley Gene: cldn19 has been classified as Green List (High Evidence).
Mendeliome v0.13326 CLDN19 Ain Roesley Phenotypes for gene: CLDN19 were changed from to Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
Mendeliome v0.13325 CLDN19 Ain Roesley Publications for gene: CLDN19 were set to
Mendeliome v0.13325 CLDN19 Ain Roesley Mode of inheritance for gene: CLDN19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13324 CLDN19 Ain Roesley reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033971, 22422540, 27530400]; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13324 CLDN16 Ain Roesley Gene: cldn16 has been classified as Green List (High Evidence).
Mendeliome v0.13324 CLDN16 Ain Roesley Phenotypes for gene: CLDN16 were changed from to Hypomagnesemia 3, renal MIM#248250; amelogenesis imperfecta MONDO#0019507, CLDN16-related
Mendeliome v0.13324 CLDN16 Ain Roesley Publications for gene: CLDN16 were set to
Mendeliome v0.13324 CLDN16 Ain Roesley Mode of inheritance for gene: CLDN16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13323 CLDN16 Ain Roesley reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912, 16501001, 10878661, 32869508; Phenotypes: Hypomagnesemia 3, renal MIM#248250, amelogenesis imperfecta MONDO#0019507, CLDN16-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13323 CLDN1 Ain Roesley Gene: cldn1 has been classified as Green List (High Evidence).
Mendeliome v0.13323 CLDN1 Ain Roesley Publications for gene: CLDN1 were set to
Mendeliome v0.13324 CLDN1 Ain Roesley Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Mendeliome v0.13323 CLDN1 Ain Roesley Mode of inheritance for gene: CLDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13322 CLDN1 Ain Roesley reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12164927, 11889141, 29146216; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13322 CLCNKB Ain Roesley Gene: clcnkb has been classified as Green List (High Evidence).
Mendeliome v0.13322 CLCNKB Ain Roesley Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090
Mendeliome v0.13322 CLCNKB Ain Roesley Publications for gene: CLCNKB were set to
Mendeliome v0.13321 CLCNKB Ain Roesley Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13321 CLCNKB Ain Roesley Mode of inheritance for gene: CLCNKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13320 CLCNKB Ain Roesley reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326936, 15044642, 18310267; Phenotypes: Bartter syndrome, type 3, MIM# 607364, Bartter syndrome, type 4b, digenic, MIM# 613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13320 CLCF1 Ain Roesley Gene: clcf1 has been classified as Green List (High Evidence).
Mendeliome v0.13320 CLCF1 Ain Roesley Phenotypes for gene: CLCF1 were changed from to Cold-induced sweating syndrome 2 MIM#610313
Mendeliome v0.13319 CLCF1 Ain Roesley Publications for gene: CLCF1 were set to
Mendeliome v0.13319 CLCF1 Ain Roesley Mode of inheritance for gene: CLCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13318 CLCF1 Ain Roesley edited their review of gene: CLCF1: Changed rating: GREEN
Mendeliome v0.13318 CLCF1 Ain Roesley reviewed gene: CLCF1: Rating: ; Mode of pathogenicity: None; Publications: 16782820, 20400119, 21370513; Phenotypes: Cold-induced sweating syndrome 2 MIM#610313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13318 PEX11B Krithika Murali reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13318 PER2 Krithika Murali reviewed gene: PER2: Rating: RED; Mode of pathogenicity: None; Publications: 33474825, 31527662, 11232563, 10408444, 11395012, 11232563; Phenotypes: ?Advanced sleep phase syndrome, familial, 1 - MIM#604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13318 CIT Ain Roesley Marked gene: CIT as ready
Mendeliome v0.13318 CIT Ain Roesley Gene: cit has been classified as Green List (High Evidence).
Mendeliome v0.13318 CIT Ain Roesley Publications for gene: CIT were set to 27453578; 27503289; 27453579
Mendeliome v0.13317 CIT Ain Roesley Phenotypes for gene: CIT were changed from Microcephaly 17, primary, autosomal recessive (MIM#617090) to Microcephaly 17, primary, autosomal recessive (MIM#617090)
Mendeliome v0.13317 CIT Ain Roesley Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)
Mendeliome v0.13316 CIT Ain Roesley Publications for gene: CIT were set to
Mendeliome v0.13316 CIT Ain Roesley Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13315 CIT Ain Roesley reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578, 27503289, 27453579; Phenotypes: Microcephaly 17, primary, autosomal recessive (MIM#617090); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13315 CISH Ain Roesley Gene: cish has been classified as Red List (Low Evidence).
Mendeliome v0.13315 CISH Ain Roesley Classified gene: CISH as Red List (low evidence)
Mendeliome v0.13315 CISH Ain Roesley Gene: cish has been classified as Red List (Low Evidence).
Mendeliome v0.13314 CISH Ain Roesley reviewed gene: CISH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13314 PDZD7 Krithika Murali reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20440071, 19028668, 26416264, 26849169, 27068579, 26445815, 28173822l, 24334608; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003, Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13314 CISD2 Ain Roesley Gene: cisd2 has been classified as Green List (High Evidence).
Mendeliome v0.13314 CISD2 Ain Roesley Publications for gene: CISD2 were set to
Mendeliome v0.13315 CISD2 Ain Roesley Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2 MIM#604928
Mendeliome v0.13314 CISD2 Ain Roesley Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13313 CISD2 Ain Roesley reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13313 CILP Ain Roesley Gene: cilp has been classified as Red List (Low Evidence).
Mendeliome v0.13313 CILP Ain Roesley Classified gene: CILP as Red List (low evidence)
Mendeliome v0.13313 CILP Ain Roesley Gene: cilp has been classified as Red List (Low Evidence).
Mendeliome v0.13312 CILP Ain Roesley reviewed gene: CILP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13312 PDYN Krithika Murali reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301317, 23471613, 23108490, 22243190, 22287014; Phenotypes: Spinocerebellar ataxia 23 - MIM#610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13312 CIC Ain Roesley Gene: cic has been classified as Green List (High Evidence).
Mendeliome v0.13312 CIC Ain Roesley Phenotypes for gene: CIC were changed from to Intellectual developmental disorder, autosomal dominant 45 MIM#617600
Mendeliome v0.13311 CIC Ain Roesley Publications for gene: CIC were set to
Mendeliome v0.13311 CIC Ain Roesley Mode of inheritance for gene: CIC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13310 CIC Ain Roesley reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288114, 21076407; Phenotypes: Intellectual developmental disorder, autosomal dominant 45 MIM#617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13310 CHST14 Ain Roesley Marked gene: CHST14 as ready
Mendeliome v0.13310 CHST14 Ain Roesley Gene: chst14 has been classified as Green List (High Evidence).
Mendeliome v0.13310 CHST14 Ain Roesley Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Mendeliome v0.13309 CHST14 Ain Roesley Publications for gene: CHST14 were set to
Mendeliome v0.13309 CHST14 Ain Roesley Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13308 CHST14 Ain Roesley reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 25703627, 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13308 CHRNA2 Ain Roesley Gene: chrna2 has been classified as Green List (High Evidence).
Mendeliome v0.13308 CHRNA2 Ain Roesley Phenotypes for gene: CHRNA2 were changed from to Epilepsy, nocturnal frontal lobe, type 4 MIM#610353
Mendeliome v0.13307 CHRNA2 Ain Roesley Publications for gene: CHRNA2 were set to
Mendeliome v0.13307 CHRNA2 Ain Roesley Mode of inheritance for gene: CHRNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13306 CHRNA2 Ain Roesley reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826524, 25770198, 30809122, 25847220; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4 MIM#610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13306 CHRM2 Ain Roesley Gene: chrm2 has been classified as Red List (Low Evidence).
Mendeliome v0.13306 CHRM2 Ain Roesley Phenotypes for gene: CHRM2 were changed from to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related
Mendeliome v0.13305 CHRM2 Ain Roesley Mode of inheritance for gene: CHRM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13305 CHRM2 Ain Roesley Publications for gene: CHRM2 were set to
Mendeliome v0.13305 CHRM2 Ain Roesley Classified gene: CHRM2 as Red List (low evidence)
Mendeliome v0.13305 CHRM2 Ain Roesley Gene: chrm2 has been classified as Red List (Low Evidence).
Mendeliome v0.13304 CHRM2 Ain Roesley reviewed gene: CHRM2: Rating: RED; Mode of pathogenicity: None; Publications: 23743182, 18451336; Phenotypes: Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13304 CHN1 Ain Roesley Gene: chn1 has been classified as Green List (High Evidence).
Mendeliome v0.13304 CHN1 Ain Roesley Publications for gene: CHN1 were set to 20301369
Mendeliome v0.13303 CHN1 Ain Roesley Phenotypes for gene: CHN1 were changed from to Duane retraction syndrome 2,MIM#604356
Mendeliome v0.13303 CHN1 Ain Roesley Publications for gene: CHN1 were set to
Mendeliome v0.13302 CHN1 Ain Roesley Mode of pathogenicity for gene: CHN1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13302 CHN1 Ain Roesley Mode of inheritance for gene: CHN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13301 CHN1 Ain Roesley changed review comment from: Established association.

GoF is the mechanism; to: Established association.
From Genereviews:
GoF is the mechanism
Mendeliome v0.13301 CHN1 Ain Roesley reviewed gene: CHN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20301369; Phenotypes: Duane retraction syndrome 2,MIM#604356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13301 CHMP4B Ain Roesley Gene: chmp4b has been classified as Green List (High Evidence).
Mendeliome v0.13301 CHMP4B Ain Roesley Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387
Mendeliome v0.13300 CHMP4B Ain Roesley Publications for gene: CHMP4B were set to
Mendeliome v0.13300 CHMP4B Ain Roesley Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13299 CHMP4B Ain Roesley reviewed gene: CHMP4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34722561, 17701905, 10682967, 30078984; Phenotypes: Cataract 31, multiple types MIM#605387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13299 CHM Ain Roesley Gene: chm has been classified as Green List (High Evidence).
Mendeliome v0.13299 CHM Ain Roesley Publications for gene: CHM were set to
Mendeliome v0.13299 CHM Ain Roesley Phenotypes for gene: CHM were changed from to Choroideremia MIM#303100
Mendeliome v0.13299 CHM Ain Roesley Mode of inheritance for gene: CHM was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13298 CHM Ain Roesley reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301511; Phenotypes: Choroideremia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.13298 CHIT1 Ain Roesley Phenotypes for gene: CHIT1 were changed from [Chitotriosidase deficiency] MIM#614122 to [Chitotriosidase deficiency] MIM#614122
Mendeliome v0.13298 CHIT1 Ain Roesley Publications for gene: CHIT1 were set to
Mendeliome v0.13297 CHIT1 Ain Roesley Phenotypes for gene: CHIT1 were changed from to [Chitotriosidase deficiency] MIM#614122
Mendeliome v0.13297 CHIT1 Ain Roesley Marked gene: CHIT1 as ready
Mendeliome v0.13297 CHIT1 Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
Mendeliome v0.13297 CHIT1 Ain Roesley Classified gene: CHIT1 as Red List (low evidence)
Mendeliome v0.13297 CHIT1 Ain Roesley Gene: chit1 has been classified as Red List (Low Evidence).
Mendeliome v0.13297 PDGFRA Krithika Murali changed review comment from: ?Suitability for Incidentalome versus Mendeliome based on adult age of diagnosis in reported cases.

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Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.

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PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.

PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues.

PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease.

PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.

PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.

PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease.

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Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.; to: Six unrelated families reported with heterozygous germline variants associated with familial GIST and/or inflammatory fibroid polyps - IFP (benign lesions caused by excessive tissue proliferation and inflammatory cell infiltration into the lumen of the GI tract). Note that reported individuals diagnosed as adults. One individual reported with diagnosis of gastric mass/polyps age 22 (in 1977) raising the possibility of pre-symptomatic disease onset in adolescence. Green PanelApp England in the following panels: tumour predisposition - childhood onset; inherited predisposition to GIST; sarcoma cancer susceptibility.

---

PMID 34107389 Hodan et al 2021 - report a 35 yo F with jejunal IFP and a heterozygous germline missense PDGFRA variant (c.1664A>G p.Y555C) . The variant segregated with 3 relatives with confirmed IFPs. Two obligate carriers were reported to have had a similar phenotype while at least one obligate male carrier had no reported history of IFPs. This variant was also reported in an unrelated family with multiple IFPs in 2006.

PMID 29486293 Manley et al 2018 - proband is a 50 yo M with multiple ileal intusussceptions and IFPs and GIST. Heterozygous D846V germline variant identified. Variant identified in daughter and 2 siblings. Coarser face, coarser skin, broader hands and feet, unexplained premature loss of teeth requiring dentures in their 40s described in relatives with the variant, no polyps or tumour identified in screened family members. Pdgfra +/K mutant mice recapitulated the human phenotype. Mice with the constitutively activated mutant PDGFRA shown to have diffuse expansion of the gastrointestinal submucosa, which exhibits an increased number of spindled fibroblast-like cells and marked collagen deposition. Mutant mice also develop intestinal polyps morphologically similar to IFPs. The Pdgfra +/K mice also exhibit thickened skin due to excess collagen deposition within the dermis and subcutaneous tissues.

PMID 25975287 Ricci et al 2015 - report a family with het germline P653L PDGFRA missense variant. The proband was a 67 yo M with multiple intra-abdominal GIST and gastric/colonic inflammatory fibroid polyps. Multiple adult relatives (youngest age 31) were diagnosed with IFPs/fibrous tumours with the variant segregating with disease.

PMID: 18670346 Carney et al 2008 and PMID: 17566086 Pasini et al 2007 - heterozygous germline PDGFRA mutation (V561D) in an individual with GIST and multiple polyps, diagnosed initially aged 22 with multiple GIST/polyps. No other relatives available for genotyping and no other significant family history reported.

PMID: 17087943 de Raedt et al 2006 - heterozygous PDGFRA(Y555C) variant reported in a family with multiple relatives affected by IFP, including one death from secondary bowel obstruction age 35.

PMID: 14699510 Chompret et al 2004 - Heterozygous c.2675G>T D846Y germline variant detected in a French family with 5 relatives developing adult-onset GIST, variant segregated with disease.

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Gain of function somatic variants associated with sporadic GIST. Somatic chromosomal rearrangements resulting in PDGFRA and FIP1L1 gene fusion associated with idiopathic hypereosinophilic syndrome.
Mendeliome v0.13296 CHIT1 Ain Roesley reviewed gene: CHIT1: Rating: RED; Mode of pathogenicity: None; Publications: 23430794; Phenotypes: [Chitotriosidase deficiency] MIM#614122; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13296 CHD1 Ain Roesley Gene: chd1 has been classified as Green List (High Evidence).
Mendeliome v0.13296 CHD1 Ain Roesley Phenotypes for gene: CHD1 were changed from to Pilarowski-Bjornsson syndrome, MIM#617682
Mendeliome v0.13296 CHD1 Ain Roesley Publications for gene: CHD1 were set to
Mendeliome v0.13295 CHD1 Ain Roesley Mode of pathogenicity for gene: CHD1 was changed from to Other
Mendeliome v0.13295 CHD1 Ain Roesley Mode of inheritance for gene: CHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13294 CHD1 Ain Roesley edited their review of gene: CHD1: Changed mode of pathogenicity: Other
Mendeliome v0.13294 CHD1 Ain Roesley reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28866611; Phenotypes: Pilarowski-Bjornsson syndrome, MIM#617682; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13294 CFP Ain Roesley Gene: cfp has been classified as Green List (High Evidence).
Mendeliome v0.13294 CFP Ain Roesley Phenotypes for gene: CFP were changed from to Properdin deficiency, X-linked MIM#312060
Mendeliome v0.13293 CFP Ain Roesley Publications for gene: CFP were set to
Mendeliome v0.13293 CFP Ain Roesley Mode of inheritance for gene: CFP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13292 CFP Ain Roesley reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 8871668, 10909851, 22229731, 9476131, 10698340, 10540191, 16511390, 19328743; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.13292 PDGFRA Krithika Murali reviewed gene: PDGFRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 14699510, 17087943, 25975287, 29486293, 33449152, 34107389, 17566086, 18670346; Phenotypes: Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial - MIM#175510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13292 CFI Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
Mendeliome v0.13292 CFI Ain Roesley Gene: cfi has been classified as Green List (High Evidence).
Mendeliome v0.13292 CFI Ain Roesley Phenotypes for gene: CFI were changed from to Complement factor I deficiency MIM#610984; {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923
Mendeliome v0.13291 CFI Ain Roesley Publications for gene: CFI were set to
Mendeliome v0.13290 CFI Ain Roesley Mode of inheritance for gene: CFI was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13289 CFI Ain Roesley reviewed gene: CFI: Rating: GREEN; Mode of pathogenicity: None; Publications: 29292855, 28942469, 27091480, 20301541; Phenotypes: Complement factor I deficiency MIM#610984, {Hemolytic uremic syndrome, atypical, susceptibility to, 3} MIM#612923; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13289 RSPH3 Belinda Chong reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 MIM#616481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13289 HSPG2 Zornitza Stark changed review comment from: Allelic disorders with some phenotypic overlap.

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.

Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported.; to: Allelic disorders with some phenotypic overlap.

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature. More than 20 families reported.

Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. Two families reported. Appears associated with null variants.
Mendeliome v0.13289 PKD1 Zornitza Stark Gene: pkd1 has been classified as Green List (High Evidence).
Mendeliome v0.13289 PKD1 Zornitza Stark Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900
Mendeliome v0.13288 PKD1 Zornitza Stark Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13287 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13287 PKD2 Zornitza Stark Gene: pkd2 has been classified as Green List (High Evidence).
Mendeliome v0.13287 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from to Polycystic kidney disease 2, MIM# 613095
Mendeliome v0.13286 PKD2 Zornitza Stark Mode of inheritance for gene: PKD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13285 PKD2 Zornitza Stark reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 2, MIM# 613095; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13285 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Mendeliome v0.13285 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from to Pyruvate kinase deficiency, MIM# 266200; Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900
Mendeliome v0.13284 PKLR Zornitza Stark Publications for gene: PKLR were set to
Mendeliome v0.13283 PKLR Zornitza Stark Mode of inheritance for gene: PKLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13282 PKLR Zornitza Stark reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1896471, 9160692, 9057665, 16704447, 9090535; Phenotypes: Pyruvate kinase deficiency, MIM# 266200, Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13282 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Mendeliome v0.13282 PKP1 Zornitza Stark Phenotypes for gene: PKP1 were changed from to Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
Mendeliome v0.13281 PKP1 Zornitza Stark Publications for gene: PKP1 were set to
Mendeliome v0.13280 PKP1 Zornitza Stark Mode of inheritance for gene: PKP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13279 PKP1 Zornitza Stark reviewed gene: PKP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073657, 16781314, 11994137, 10951270, 32346906; Phenotypes: Ectodermal dysplasia/skin fragility syndrome, MIM# 604536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13279 PLA2G5 Zornitza Stark Gene: pla2g5 has been classified as Green List (High Evidence).
Mendeliome v0.13279 PLA2G5 Zornitza Stark Phenotypes for gene: PLA2G5 were changed from to [Fleck retina, familial benign], MIM# 228980
Mendeliome v0.13278 PLA2G5 Zornitza Stark Publications for gene: PLA2G5 were set to
Mendeliome v0.13277 PLA2G5 Zornitza Stark Mode of inheritance for gene: PLA2G5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13276 PLA2G5 Zornitza Stark reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22137173; Phenotypes: [Fleck retina, familial benign], MIM# 228980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13276 PLCE1 Zornitza Stark Gene: plce1 has been classified as Green List (High Evidence).
Mendeliome v0.13276 PLCE1 Zornitza Stark Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725
Mendeliome v0.13275 PLCE1 Zornitza Stark Publications for gene: PLCE1 were set to
Mendeliome v0.13274 PLCE1 Zornitza Stark Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13273 PLCE1 Zornitza Stark reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13273 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Mendeliome v0.13273 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Mendeliome v0.13272 PLCG2 Zornitza Stark Publications for gene: PLCG2 were set to
Mendeliome v0.13271 PLCG2 Zornitza Stark Mode of pathogenicity for gene: PLCG2 was changed from to Other
Mendeliome v0.13270 PLCG2 Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13269 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from Osteopetrosis, autosomal dominant 3, MIM# 618107 to Osteopetrosis, autosomal dominant 3, MIM# 618107; Osteopetrosis, autosomal recessive 6 , MIM# 611497
Mendeliome v0.13268 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to 27291868; 21054159; 17997709; 17404618
Mendeliome v0.13267 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13266 PLEKHM1 Zornitza Stark changed review comment from: Three individuals reported with mono allelic variants, and one with bi-allelic. Animal model.; to: Three individuals reported with mono allelic variants, and two with bi-allelic. Animal models.
Mendeliome v0.13266 PLEKHM1 Zornitza Stark edited their review of gene: PLEKHM1: Changed publications: 27291868, 21054159, 17997709, 17404618, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107, Osteopetrosis, autosomal recessive 6 , MIM# 611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13266 PLEKHM1 Zornitza Stark Gene: plekhm1 has been classified as Green List (High Evidence).
Mendeliome v0.13266 PLEKHM1 Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from to Osteopetrosis, autosomal dominant 3, MIM# 618107
Mendeliome v0.13265 PLEKHM1 Zornitza Stark Publications for gene: PLEKHM1 were set to
Mendeliome v0.13264 PLEKHM1 Zornitza Stark Mode of inheritance for gene: PLEKHM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13263 PLEKHM1 Zornitza Stark reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27291868, 21054159, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal dominant 3, MIM# 618107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13263 RSPH4A Belinda Chong edited their review of gene: RSPH4A: Changed publications: 23798057, 23798057, 23798057, 25789548, 22448264
Mendeliome v0.13263 RSPH4A Belinda Chong changed review comment from: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)

9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):
- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene.
- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene
- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.

Common founder mutation:
- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.

Multiple individuals in ClinVar with primary ciliary dyskinesia; to: Radial spokes are regularly spaced along cilia, sperm, and flagella axonemes and have a multisubunit 'stalk' and 'head' that form a signal transduction scaffold between the central microtubule pair and dynein arms. RSPH4A is predicted to be a component of the radial spoke head based on homology with proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates (Castleman et al., 2009; PMID19200523)

9 families with primary ciliary dyskinesia without situs inversus (Kott et al. 2013 (PMID:23993197), Castleman et al., 2009 (PMID19200523) and Daniels et al. 2013; (PMID:23798057)):
- In affected members of 4 Pakistani families with CILD11, Castleman et al. (2009) identified a homozygous mutation in the RSPH4A gene.
- In affected members of a family of northern European descent with CILD11, Castleman et al. (2009) identified compound heterozygosity for 2 mutations in the RSPH4A gene
- Kott et al. (2013) identified pathogenic mutations in the RSPH4A gene in 7 (14%) of 48 families with a specific CILD.

Common founder mutation:
- Daniels et al. (2013) identified a common founder mutation in the RSPH4A gene in 9 patients with CILD11, all of whom had Puerto Rican ancestry.

Multiple individuals in ClinVar with primary ciliary dyskinesia

PMID: 25789548; Frommer 2015: 8 PCD families reported, only 4 different variants identified. Functional studies performed.

PMID: 22448264; Ziętkiewicz 2012: 4 additional families/variants reported.
Mendeliome v0.13263 RSPH4A Belinda Chong reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23798057, 23798057, 23798057; Phenotypes: Ciliary dyskinesia, primary, 11 OMIM#612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13263 RSPH9 Belinda Chong reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22384920, 23993197, 19200523, 27626380; Phenotypes: Ciliary dyskinesia, primary, 12 MIM#612650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13263 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Mendeliome v0.13263 PLN Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18 (MIM #613874)
Mendeliome v0.13262 PLN Zornitza Stark Publications for gene: PLN were set to
Mendeliome v0.13261 PLN Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13260 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18 (MIM #613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13260 PLOD1 Zornitza Stark edited their review of gene: PLOD1: Changed phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
Mendeliome v0.13260 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Mendeliome v0.13260 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM## 225400
Mendeliome v0.13259 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Mendeliome v0.13258 PLOD1 Zornitza Stark Mode of inheritance for gene: PLOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13257 PLOD1 Zornitza Stark reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306225; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1.<O<# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13257 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Mendeliome v0.13257 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220
Mendeliome v0.13256 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Mendeliome v0.13255 PLOD2 Zornitza Stark Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13254 PLOD2 Zornitza Stark reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13254 PMFBP1 Zornitza Stark Gene: pmfbp1 has been classified as Green List (High Evidence).
Mendeliome v0.13254 PMFBP1 Zornitza Stark Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394
Mendeliome v0.13253 PMFBP1 Zornitza Stark Publications for gene: PMFBP1 were set to
Mendeliome v0.13252 PMFBP1 Zornitza Stark Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13251 PMFBP1 Zornitza Stark reviewed gene: PMFBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33484382, 33452591, 32285443; Phenotypes: Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13251 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Mendeliome v0.13251 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Mendeliome v0.13250 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Mendeliome v0.13249 PMPCA Zornitza Stark Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13248 PMPCA Zornitza Stark reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25808372, 26657514, 33272776, 30617178; Phenotypes: Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13248 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Mendeliome v0.13248 PMPCB Zornitza Stark Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Mendeliome v0.13247 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Mendeliome v0.13246 PMPCB Zornitza Stark Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13245 PMPCB Zornitza Stark changed review comment from: Progressive disorder, includes ataxia. Four unrelated families reported.; to: Progressive disorder. Four unrelated families reported.
Mendeliome v0.13245 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Mendeliome v0.13245 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Mendeliome v0.13244 PNPO Zornitza Stark Publications for gene: PNPO were set to
Mendeliome v0.13243 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13242 PNPO Zornitza Stark reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443, 33981986, 33748042, 32888189; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13242 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Mendeliome v0.13242 PODXL Zornitza Stark Phenotypes for gene: PODXL were changed from to Nephrotic syndrome, MONDO:0005377, PODXL-related
Mendeliome v0.13241 PODXL Zornitza Stark Publications for gene: PODXL were set to
Mendeliome v0.13240 PODXL Zornitza Stark Mode of inheritance for gene: PODXL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13239 PODXL Zornitza Stark reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30523047, 29244787, 28117080, 24048372; Phenotypes: Nephrotic syndrome, MONDO:0005377, PODXL-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13239 POFUT1 Zornitza Stark Marked gene: POFUT1 as ready
Mendeliome v0.13239 POFUT1 Zornitza Stark Gene: pofut1 has been classified as Green List (High Evidence).
Mendeliome v0.13239 POFUT1 Zornitza Stark Phenotypes for gene: POFUT1 were changed from to Dowling-Degos disease 2 (MIM# 615327)
Mendeliome v0.13238 POFUT1 Zornitza Stark Publications for gene: POFUT1 were set to
Mendeliome v0.13237 POFUT1 Zornitza Stark Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13236 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Mendeliome v0.13236 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640
Mendeliome v0.13235 POLG Zornitza Stark Publications for gene: POLG were set to
Mendeliome v0.13234 POLG Zornitza Stark commented on gene: POLG: Reviewed in PMID 30451971
Mendeliome v0.13234 POLG Zornitza Stark edited their review of gene: POLG: Changed publications: 30451971
Mendeliome v0.13234 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13233 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13233 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Mendeliome v0.13233 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Mendeliome v0.13233 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76 617123
Mendeliome v0.13232 POMGNT1 Zornitza Stark Publications for gene: POMGNT1 were set to
Mendeliome v0.13231 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13230 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613, 30961548, 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13230 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Mendeliome v0.13230 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Mendeliome v0.13230 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135
Mendeliome v0.13229 POMGNT2 Zornitza Stark Publications for gene: POMGNT2 were set to
Mendeliome v0.13228 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13227 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34301702, 27066570, 26060116, 22958903; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13227 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Mendeliome v0.13227 POMK Zornitza Stark Phenotypes for gene: POMK were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094
Mendeliome v0.13226 POMK Zornitza Stark Publications for gene: POMK were set to
Mendeliome v0.13225 POMK Zornitza Stark Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13224 POMK Zornitza Stark reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13224 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Mendeliome v0.13224 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from to Cone-rod dystrophy 11, MIM# 610381
Mendeliome v0.13223 RAX2 Zornitza Stark Publications for gene: RAX2 were set to
Mendeliome v0.13222 RAX2 Zornitza Stark Mode of inheritance for gene: RAX2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13221 RAX2 Zornitza Stark reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15028672, 25789692, 30607024; Phenotypes: Cone-rod dystrophy 11, MIM# 610381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13221 RASA1 Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence).
Mendeliome v0.13221 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to 29706351; 29777155; 33129895
Mendeliome v0.13220 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Mendeliome v0.13220 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)
Mendeliome v0.13219 PDX1 Zornitza Stark Publications for gene: PDX1 were set to
Mendeliome v0.13218 PDX1 Zornitza Stark Mode of inheritance for gene: PDX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13217 PDX1 Zornitza Stark Mode of inheritance for gene: PDX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13216 PDP1 Zornitza Stark Publications for gene: PDP1 were set to 15855260
Mendeliome v0.13215 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392110, 19184109, 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13215 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Mendeliome v0.13215 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Mendeliome v0.13214 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Mendeliome v0.13213 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13212 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Mendeliome v0.13212 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111
Mendeliome v0.13211 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13210 RSPO1 Zornitza Stark Gene: rspo1 has been classified as Green List (High Evidence).
Mendeliome v0.13210 RSPO1 Zornitza Stark Phenotypes for gene: RSPO1 were changed from to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644
Mendeliome v0.13209 RSPO1 Zornitza Stark Publications for gene: RSPO1 were set to
Mendeliome v0.13208 RSPO1 Zornitza Stark Mode of inheritance for gene: RSPO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13207 FBRSL1 Zornitza Stark Phenotypes for gene: FBRSL1 were changed from syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome to syndromic disease MONDO:0002254, FBRSL1-related; Malformation and intellectual disability syndrome
Mendeliome v0.13206 FAT1 Zornitza Stark Phenotypes for gene: FAT1 were changed from syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Mendeliome v0.13205 FAT1 Zornitza Stark reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254, FAT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13205 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13204 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13203 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Mendeliome v0.13203 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Mendeliome v0.13202 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Mendeliome v0.13201 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13200 FAS Zornitza Stark edited their review of gene: FAS: Changed phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13200 FAS Zornitza Stark reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13200 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Mendeliome v0.13200 PDE6H Zornitza Stark Phenotypes for gene: PDE6H were changed from to Achromatopsia 6 - MIM#610024
Mendeliome v0.13199 PDE6H Zornitza Stark Publications for gene: PDE6H were set to
Mendeliome v0.13198 PDE6H Zornitza Stark Mode of inheritance for gene: PDE6H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13197 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13197 PDE6G Zornitza Stark Phenotypes for gene: PDE6G were changed from to Retinitis pigmentosa 57 - MIM#613582
Mendeliome v0.13196 PDE6G Zornitza Stark Publications for gene: PDE6G were set to
Mendeliome v0.13195 PDE6G Zornitza Stark Mode of inheritance for gene: PDE6G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13194 PDE6G Zornitza Stark Classified gene: PDE6G as Amber List (moderate evidence)
Mendeliome v0.13194 PDE6G Zornitza Stark Gene: pde6g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13193 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Mendeliome v0.13193 PDE6C Zornitza Stark Phenotypes for gene: PDE6C were changed from to Cone dystrophy 4, MIM# 613093; Achromatopsia-5
Mendeliome v0.13192 PDE6C Zornitza Stark Publications for gene: PDE6C were set to
Mendeliome v0.13191 PDE6C Zornitza Stark Mode of inheritance for gene: PDE6C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13190 PDE6C Zornitza Stark reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13190 PDE6B Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence).
Mendeliome v0.13190 PDE6B Zornitza Stark Phenotypes for gene: PDE6B were changed from to Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500; Retinitis pigmentosa-40 - MIM#613801
Mendeliome v0.13189 PDE6B Zornitza Stark Publications for gene: PDE6B were set to
Mendeliome v0.13188 PDE6B Zornitza Stark Mode of inheritance for gene: PDE6B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13187 PDE6A Zornitza Stark Gene: pde6a has been classified as Green List (High Evidence).
Mendeliome v0.13187 PDE6A Zornitza Stark Phenotypes for gene: PDE6A were changed from to Retinitis pigmentosa 43 - MIM#613810
Mendeliome v0.13186 PDE6A Zornitza Stark Publications for gene: PDE6A were set to
Mendeliome v0.13185 PDE6A Zornitza Stark Mode of inheritance for gene: PDE6A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13184 PDE6A Zornitza Stark reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13184 PDE4D Zornitza Stark Gene: pde4d has been classified as Green List (High Evidence).
Mendeliome v0.13184 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613
Mendeliome v0.13183 PDE4D Zornitza Stark Publications for gene: PDE4D were set to
Mendeliome v0.13182 PDE4D Zornitza Stark Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13181 PDE4D Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13181 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Mendeliome v0.13181 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome - MIM#112410
Mendeliome v0.13180 PDE3A Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13179 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Mendeliome v0.13179 PDE11A Zornitza Stark Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475
Mendeliome v0.13178 PDE11A Zornitza Stark Publications for gene: PDE11A were set to
Mendeliome v0.13177 PDE11A Zornitza Stark Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13176 PDE11A Zornitza Stark Classified gene: PDE11A as Red List (low evidence)
Mendeliome v0.13176 PDE11A Zornitza Stark Gene: pde11a has been classified as Red List (Low Evidence).
Mendeliome v0.13175 PDE11A Zornitza Stark Tag disputed tag was added to gene: PDE11A.
Mendeliome v0.13175 SHH Zornitza Stark Added comment: Comment when marking as ready: DISPUTED association with schizencephaly
Mendeliome v0.13175 SHH Zornitza Stark Gene: shh has been classified as Green List (High Evidence).
Mendeliome v0.13175 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250
Mendeliome v0.13174 SHH Zornitza Stark Publications for gene: SHH were set to
Mendeliome v0.13173 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13172 FAM111B Zornitza Stark reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13172 SH3BP2 Zornitza Stark commented on gene: SH3BP2: Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment.
Mendeliome v0.13172 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Green List (High Evidence).
Mendeliome v0.13172 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM#118400
Mendeliome v0.13171 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Mendeliome v0.13170 SH3BP2 Zornitza Stark Mode of pathogenicity for gene: SH3BP2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.13169 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13169 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13168 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13168 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder; Deafness, autosomal dominant 84 MIM#619810 to Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.13167 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed rating: AMBER
Mendeliome v0.13167 ATP11A Zornitza Stark reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13167 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751 to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mendeliome v0.13166 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Mendeliome v0.13166 CEBPA Zornitza Stark Phenotypes for gene: CEBPA were changed from Leukemia, acute myeloid, somatic MIM#601626 to Leukaemia, acute myeloid, MIM#601626
Mendeliome v0.13165 CEBPA Zornitza Stark Publications for gene: CEBPA were set to
Mendeliome v0.13164 CEBPA Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13163 CEBPA Zornitza Stark Classified gene: CEBPA as Green List (high evidence)
Mendeliome v0.13163 CEBPA Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence).
Mendeliome v0.13162 CEBPA Zornitza Stark reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukaemia, acute myeloid , MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13162 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13161 CDKN2A Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13160 CDKN2A Zornitza Stark Classified gene: CDKN2A as Green List (high evidence)
Mendeliome v0.13160 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Green List (High Evidence).
Mendeliome v0.13159 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2} MIM#155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13159 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
Mendeliome v0.13159 CD79B Zornitza Stark Phenotypes for gene: CD79B were changed from Agammaglobulinemia 6 MIM#612692 to Agammaglobulinaemia 6, MIM#612692
Mendeliome v0.13158 DNAJB11 Elena Savva reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34177435, 29706351, 29777155, 33129895; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome, Prenatal Polycystic Kidney Disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13158 CD320 Zornitza Stark Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13157 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Green List (High Evidence).
Mendeliome v0.13157 SLC12A3 Zornitza Stark Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, MIM# 263800
Mendeliome v0.13156 SLC12A3 Zornitza Stark Publications for gene: SLC12A3 were set to
Mendeliome v0.13155 SLC12A3 Zornitza Stark Mode of inheritance for gene: SLC12A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13154 SLC12A3 Zornitza Stark reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528245, 11102542; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13154 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to 18387594; 18950740; 18513680; 18950740; 19574260; 21725307; 33486889
Mendeliome v0.13153 CC2D2A Zornitza Stark changed review comment from: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.; to: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.

Note single family reported with isolated RP.
Mendeliome v0.13153 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 30267408
Mendeliome v0.13153 CC2D2A Zornitza Stark edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845
Mendeliome v0.13153 PIDD1 Zornitza Stark Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Mendeliome v0.13152 PIDD1 Zornitza Stark edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827
Mendeliome v0.13152 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Mendeliome v0.13152 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM# 601678
Mendeliome v0.13151 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Mendeliome v0.13150 SLC12A1 Zornitza Stark Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13149 SLC12A1 Zornitza Stark reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13149 FGF23 Bryony Thompson Gene: fgf23 has been classified as Green List (High Evidence).
Mendeliome v0.13149 FGF23 Bryony Thompson Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Mendeliome v0.13148 FGF23 Bryony Thompson Publications for gene: FGF23 were set to
Mendeliome v0.13147 PDX1 Krithika Murali reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: Pancreatic agenesis 1 - MIM#260370 (AR), MODY, type IV - MIM#606392(AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13147 FGF23 Bryony Thompson Mode of pathogenicity for gene: FGF23 was changed from to Other
Mendeliome v0.13146 FGF23 Bryony Thompson Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13145 FGF5 Bryony Thompson Phenotypes for gene: FGF5 were changed from Hypertrichosis to hypertrichosis MONDO:0019280
Mendeliome v0.13144 FGF14 Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227
Mendeliome v0.13143 FGF23 Bryony Thompson reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062477, 14966565, 15590700, 16151858, 16030159, 25378588, 34444516; Phenotypes: autosomal dominant hypophosphatemic rickets MONDO:0008660, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13143 PDP1 Krithika Murali reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13143 PDHB Krithika Murali reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency - MIM#614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13143 FGF14 Bryony Thompson Publications for gene: FGF14 were set to
Mendeliome v0.13142 FGF14 Bryony Thompson Phenotypes for gene: FGF14 were changed from Spinocerebellar ataxia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307
Mendeliome v0.13141 FGF14 Bryony Thompson edited their review of gene: FGF14: Added comment: 4 families with spinocerebellar ataxia and 7 families with episodic ataxia. Supporting animal models for both SCA and EA.; Changed publications: 12123606, 12489043, 15470364, 29253853, 30017992, 32112487, 32162847; Changed phenotypes: spinocerebellar ataxia type 27 MONDO:0012247, hereditary episodic ataxia MONDO:0016227; Set current diagnostic: yes
Mendeliome v0.13141 FGF10 Bryony Thompson Gene: fgf10 has been classified as Green List (High Evidence).
Mendeliome v0.13141 FGF10 Bryony Thompson Phenotypes for gene: FGF10 were changed from to congenital alveolar dysplasia due to FGF10 MONDO:0100090; acinar dysplasia caused by mutation in FGF10 MONDO:0600017
Mendeliome v0.13140 FGF10 Bryony Thompson Publications for gene: FGF10 were set to
Mendeliome v0.13139 FGF10 Bryony Thompson Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13138 FGF10 Bryony Thompson reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916808, 15654336, 16501574, 16630169, 17213838, 33967277, 30639323; Phenotypes: congenital alveolar dysplasia due to FGF10 MONDO:0100090, acinar dysplasia caused by mutation in FGF10 MONDO:0600017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13138 FFAR4 Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
Mendeliome v0.13138 FFAR4 Bryony Thompson Phenotypes for gene: FFAR4 were changed from to {Obesity, susceptibility to} MIM#607514
Mendeliome v0.13137 FDXR Bryony Thompson Deleted their review
Mendeliome v0.13137 FFAR4 Bryony Thompson Publications for gene: FFAR4 were set to
Mendeliome v0.13136 FDXR Bryony Thompson reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.13136 FDXR Bryony Thompson Deleted their review
Mendeliome v0.13136 FFAR4 Bryony Thompson Classified gene: FFAR4 as Red List (low evidence)
Mendeliome v0.13136 FFAR4 Bryony Thompson Gene: ffar4 has been classified as Red List (Low Evidence).
Mendeliome v0.13135 FFAR4 Bryony Thompson reviewed gene: FFAR4: Rating: RED; Mode of pathogenicity: None; Publications: 22343897, 34043793; Phenotypes: {Obesity, susceptibility to} MIM#607514; Mode of inheritance: Unknown
Mendeliome v0.13135 FDXR Bryony Thompson Deleted their comment
Mendeliome v0.13135 FDX2 Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence).
Mendeliome v0.13135 FDX2 Bryony Thompson Phenotypes for gene: FDX2 were changed from to inborn mitochondrial myopathy MONDO:0009637
Mendeliome v0.13134 FDX2 Bryony Thompson Publications for gene: FDX2 were set to
Mendeliome v0.13133 FDX2 Bryony Thompson Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13132 FDX2 Bryony Thompson reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13132 FDFT1 Bryony Thompson Marked gene: FDFT1 as ready
Mendeliome v0.13132 FDFT1 Bryony Thompson Gene: fdft1 has been classified as Green List (High Evidence).
Mendeliome v0.13132 FDFT1 Bryony Thompson Phenotypes for gene: FDFT1 were changed from to squalene synthase deficiency MONDO:0032566
Mendeliome v0.13131 FDFT1 Bryony Thompson Publications for gene: FDFT1 were set to
Mendeliome v0.13130 FDFT1 Bryony Thompson Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13129 FDFT1 Bryony Thompson reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13129 FBXO7 Bryony Thompson Gene: fbxo7 has been classified as Green List (High Evidence).
Mendeliome v0.13129 FBXO7 Bryony Thompson Phenotypes for gene: FBXO7 were changed from to parkinsonian-pyramidal syndrome MONDO:0009830
Mendeliome v0.13128 FBXO7 Bryony Thompson Publications for gene: FBXO7 were set to
Mendeliome v0.13127 FBXW7 Bryony Thompson Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition to neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058
Mendeliome v0.13126 FBXO7 Bryony Thompson Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13125 FBXO7 Bryony Thompson reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513678, 19038853, 34781237; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13125 RSPO1 Belinda Chong reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13125 FBP1 Bryony Thompson Gene: fbp1 has been classified as Green List (High Evidence).
Mendeliome v0.13125 FBP1 Bryony Thompson Phenotypes for gene: FBP1 were changed from to fructose-1,6-bisphosphatase deficiency MONDO:0009251
Mendeliome v0.13124 FBRSL1 Bryony Thompson Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome
Mendeliome v0.13123 FBP1 Bryony Thompson Publications for gene: FBP1 were set to
Mendeliome v0.13122 FBP1 Bryony Thompson Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13121 FBP1 Bryony Thompson changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.
Mendeliome v0.13121 FBP1 Bryony Thompson reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13121 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.13120 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.13120 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Mendeliome v0.13120 GLRA2 Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
Mendeliome v0.13120 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Mendeliome v0.13119 GLRA2 Zornitza Stark gene: GLRA2 was added
gene: GLRA2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLRA2 were set to 26370147; 20479760; 35294868
Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
Review for gene: GLRA2 was set to GREEN
Added comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model.
Sources: Expert list
Mendeliome v0.13118 FAT1 Bryony Thompson Phenotypes for gene: FAT1 were changed from facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Mendeliome v0.13117 FASTKD2 Bryony Thompson Marked gene: FASTKD2 as ready
Mendeliome v0.13117 FASTKD2 Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence).
Mendeliome v0.13117 FASTKD2 Bryony Thompson Phenotypes for gene: FASTKD2 were changed from to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mendeliome v0.13116 FASTKD2 Bryony Thompson Publications for gene: FASTKD2 were set to
Mendeliome v0.13115 FASTKD2 Bryony Thompson reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13115 FASLG Bryony Thompson Gene: faslg has been classified as Green List (High Evidence).
Mendeliome v0.13115 FASLG Bryony Thompson Phenotypes for gene: FASLG were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Mendeliome v0.13114 FASLG Bryony Thompson Publications for gene: FASLG were set to
Mendeliome v0.13113 FASLG Bryony Thompson Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13112 FASLG Bryony Thompson reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13112 PDHA1 Krithika Murali reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8504309; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.13112 FAS Bryony Thompson Gene: fas has been classified as Green List (High Evidence).
Mendeliome v0.13112 FAS Bryony Thompson Phenotypes for gene: FAS were changed from to autoimmune lymphoproliferative syndrome MONDO:0017979
Mendeliome v0.13111 FAS Bryony Thompson Publications for gene: FAS were set to
Mendeliome v0.13110 FAS Bryony Thompson Mode of inheritance for gene: FAS was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13109 FARSB Bryony Thompson Gene: farsb has been classified as Green List (High Evidence).
Mendeliome v0.13109 FAS Bryony Thompson reviewed gene: FAS: Rating: ; Mode of pathogenicity: None; Publications: 7540117, 7539157, 15459302, 33995372, 34171534; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13109 FARSB Bryony Thompson Phenotypes for gene: FARSB were changed from to Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215
Mendeliome v0.13108 FARSB Bryony Thompson Publications for gene: FARSB were set to
Mendeliome v0.13107 FARSB Bryony Thompson Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13106 FARSB Bryony Thompson reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 30014610, 29979980; Phenotypes: Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13106 FARS2 Bryony Thompson Gene: fars2 has been classified as Green List (High Evidence).
Mendeliome v0.13106 FARS2 Bryony Thompson Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
Mendeliome v0.13105 FARS2 Bryony Thompson Publications for gene: FARS2 were set to
Mendeliome v0.13104 FARS2 Bryony Thompson Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13103 PDE6H Krithika Murali reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6 - MIM#610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13103 FARS2 Bryony Thompson reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13103 FAM58A Bryony Thompson Gene: fam58a has been classified as Green List (High Evidence).
Mendeliome v0.13103 FAM58A Bryony Thompson Phenotypes for gene: FAM58A were changed from to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
Mendeliome v0.13102 FAM58A Bryony Thompson Publications for gene: FAM58A were set to
Mendeliome v0.13101 PDE6G Krithika Murali reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13101 PDE6C Krithika Murali reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone dystrophy 4 - MIM#613093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13101 FAM58A Bryony Thompson Mode of inheritance for gene: FAM58A was changed from Unknown to Other
Mendeliome v0.13100 PDE6B Krithika Murali reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500, Retinitis pigmentosa-40 - MIM#613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13100 PDE6A Krithika Murali reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13100 FAM58A Bryony Thompson reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28322501, 8818947; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.13100 FAM161A Bryony Thompson Gene: fam161a has been classified as Green List (High Evidence).
Mendeliome v0.13100 PDE4D Krithika Murali reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 24203977, 22464250; Phenotypes: Acrodysostosis 2, with or without hormone resistance-MIM#614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 PDE3A Krithika Murali reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertension and brachydactyly syndrome - MIM#112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 PDE11A Krithika Murali reviewed gene: PDE11A: Rating: RED; Mode of pathogenicity: None; Publications: 16767104, 18559625, 21047926, 17178847; Phenotypes: Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13100 FAM161A Bryony Thompson Phenotypes for gene: FAM161A were changed from to retinitis pigmentosa 28 MONDO:0011630
Mendeliome v0.13099 FAM161A Bryony Thompson Publications for gene: FAM161A were set to
Mendeliome v0.13098 FAM161A Bryony Thompson Mode of inheritance for gene: FAM161A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13097 FAM161A Bryony Thompson reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13097 FAM126A Bryony Thompson Gene: fam126a has been classified as Green List (High Evidence).
Mendeliome v0.13097 FAM126A Bryony Thompson Publications for gene: FAM126A were set to
Mendeliome v0.13096 SHH Samantha Ayres reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 21976454, 12503095, 22791840, 19057928, 19533790; Phenotypes: Holoprosencephaly 3, MIM#142945, Microphthalmia with coloboma 5, MIM#611638, Schizencephaly, MIM#269160, Single median maxillary central incisor, MIM#147250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13096 FAM126A Bryony Thompson Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514
Mendeliome v0.13095 FAM126A Bryony Thompson reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13095 FAM126A Bryony Thompson Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13094 FAM111B Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence).
Mendeliome v0.13094 FAM111B Bryony Thompson Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Mendeliome v0.13093 FAM111B Bryony Thompson Publications for gene: FAM111B were set to
Mendeliome v0.13092 FAM111B Bryony Thompson Mode of pathogenicity for gene: FAM111B was changed from to Other
Mendeliome v0.13091 FAM111B Bryony Thompson Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13090 FAM111B Bryony Thompson edited their review of gene: FAM111B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13090 FAM111B Bryony Thompson reviewed gene: FAM111B: Rating: ; Mode of pathogenicity: Other; Publications: 24268661, 26471370, 26495788, 27406236; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13090 FAM111A Bryony Thompson Gene: fam111a has been classified as Green List (High Evidence).
Mendeliome v0.13090 FAM111A Bryony Thompson Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Mendeliome v0.13089 FAM111A Bryony Thompson Publications for gene: FAM111A were set to
Mendeliome v0.13088 FAM111A Bryony Thompson Mode of pathogenicity for gene: FAM111A was changed from to Other
Mendeliome v0.13087 FAM111A Bryony Thompson Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13086 FAM111A Bryony Thompson reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684011, 32996714, 32765931, 33010201; Phenotypes: autosomal dominant Kenny-Caffey syndrome MONDO:0007478; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13086 FADD Bryony Thompson Gene: fadd has been classified as Green List (High Evidence).
Mendeliome v0.13086 FADD Bryony Thompson Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
Mendeliome v0.13085 FAH Bryony Thompson Gene: fah has been classified as Green List (High Evidence).
Mendeliome v0.13085 FADD Bryony Thompson Publications for gene: FADD were set to
Mendeliome v0.13084 FAH Bryony Thompson Phenotypes for gene: FAH were changed from to Tyrosinemia type I MONDO:0010161
Mendeliome v0.13083 FAH Bryony Thompson Publications for gene: FAH were set to
Mendeliome v0.13082 FAH Bryony Thompson Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13081 FAH Bryony Thompson reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinemia type I MONDO:0010161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13081 FADD Bryony Thompson Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13080 FADD Bryony Thompson reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21109225, 25794656, 32350755, 32971525; Phenotypes: FADD-related immunodeficiency MONDO:0013408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13080 SH3BP2 Samantha Ayres reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381256, 22640988, 20301316, 22153076; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.13080 F12 Bryony Thompson Gene: f12 has been classified as Green List (High Evidence).
Mendeliome v0.13080 F12 Bryony Thompson Phenotypes for gene: F12 were changed from to Hereditary angioedema type 3 MONDO:0012526
Mendeliome v0.13079 F12 Bryony Thompson Publications for gene: F12 were set to
Mendeliome v0.13078 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Mendeliome v0.13078 POMP Zornitza Stark Phenotypes for gene: POMP were changed from to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Proteasome-associated autoinflammatory syndrome 2, MIM# 618048
Mendeliome v0.13077 POMP Zornitza Stark Publications for gene: POMP were set to
Mendeliome v0.13076 POMP Zornitza Stark Mode of inheritance for gene: POMP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13075 POMP Zornitza Stark Tag 5'UTR tag was added to gene: POMP.
Mendeliome v0.13075 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20226437, 27503413, 29805043; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952, Proteasome-associated autoinflammatory syndrome 2, MIM# 618048; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13075 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Mendeliome v0.13075 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Mendeliome v0.13075 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Mendeliome v0.13074 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13073 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13073 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Mendeliome v0.13073 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Mendeliome v0.13073 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Mendeliome v0.13072 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13071 POMT2 Zornitza Stark edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
Mendeliome v0.13071 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13071 PPARA Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
Mendeliome v0.13071 PPARA Zornitza Stark Phenotypes for gene: PPARA were changed from to {Hyperapobetalipoproteinemia, susceptibility to}
Mendeliome v0.13070 PPARA Zornitza Stark Mode of inheritance for gene: PPARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13069 PPARA Zornitza Stark Classified gene: PPARA as Red List (low evidence)
Mendeliome v0.13069 PPARA Zornitza Stark Gene: ppara has been classified as Red List (Low Evidence).
Mendeliome v0.13068 PPARA Zornitza Stark reviewed gene: PPARA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hyperapobetalipoproteinemia, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13068 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Mendeliome v0.13068 PPM1K Zornitza Stark Phenotypes for gene: PPM1K were changed from to Maple syrup urine disease, mild variant, MIM#615135
Mendeliome v0.13067 PPM1K Zornitza Stark Publications for gene: PPM1K were set to
Mendeliome v0.13066 PPM1K Zornitza Stark Mode of inheritance for gene: PPM1K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13065 PPM1K Zornitza Stark Classified gene: PPM1K as Red List (low evidence)
Mendeliome v0.13065 PPM1K Zornitza Stark Gene: ppm1k has been classified as Red List (Low Evidence).
Mendeliome v0.13064 PPM1K Zornitza Stark reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: None; Publications: 23086801; Phenotypes: Maple syrup urine disease, mild variant, MIM#615135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13064 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Mendeliome v0.13064 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from to Porphyria variegata , MIM#176200
Mendeliome v0.13063 PPOX Zornitza Stark Publications for gene: PPOX were set to
Mendeliome v0.13062 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13061 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12357337, 32247286, 23324528, 27982422; Phenotypes: Porphyria variegata , MIM#176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13061 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13061 SH2D1A Samantha Ayres reviewed gene: SH2D1A: Rating: ; Mode of pathogenicity: None; Publications: 6306053, 9771704, 11049992, 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.13061 SGCG Samantha Ayres reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821, 8923014, 7481775, 8968757, 27708273; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13061 CFHR5 Ain Roesley Gene: cfhr5 has been classified as Green List (High Evidence).
Mendeliome v0.13061 CFHR5 Ain Roesley Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
Mendeliome v0.13060 CFHR5 Ain Roesley Publications for gene: CFHR5 were set to
Mendeliome v0.13060 CFHR5 Ain Roesley Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13059 CFHR5 Ain Roesley reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Phenotypes: Nephropathy due to CFHR5 deficiency, MIM#614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13059 CFH Ain Roesley Gene: cfh has been classified as Green List (High Evidence).
Mendeliome v0.13059 CFH Ain Roesley Phenotypes for gene: CFH were changed from to Basal laminar drusen MIM#126700; Complement factor H deficiency MIM#609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400
Mendeliome v0.13059 CFH Ain Roesley Publications for gene: CFH were set to
Mendeliome v0.13059 CFH Ain Roesley Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13058 CFH Ain Roesley reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826, 20301541, 9312129, 10803850, 29888403, 30905644; Phenotypes: Basal laminar drusen MIM#126700, Complement factor H deficiency MIM#609814, {Hemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13058 PPP1R15B Zornitza Stark Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817
Mendeliome v0.13057 PPP1R15B Zornitza Stark Publications for gene: PPP1R15B were set to
Mendeliome v0.13056 PPP1R15B Zornitza Stark Mode of inheritance for gene: PPP1R15B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13055 PPP1R15B Zornitza Stark Classified gene: PPP1R15B as Amber List (moderate evidence)
Mendeliome v0.13055 PPP1R15B Zornitza Stark Gene: ppp1r15b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13054 PPP1R15B Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 26159176, 26307080, 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13054 PPP1R3A Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
Mendeliome v0.13054 PPP1R3A Zornitza Stark Phenotypes for gene: PPP1R3A were changed from to Insulin resistance, severe, digenic 125853
Mendeliome v0.13053 PPP1R3A Zornitza Stark Publications for gene: PPP1R3A were set to
Mendeliome v0.13052 PPP1R3A Zornitza Stark Mode of inheritance for gene: PPP1R3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13051 PPP1R3A Zornitza Stark Classified gene: PPP1R3A as Red List (low evidence)
Mendeliome v0.13051 PPP1R3A Zornitza Stark Gene: ppp1r3a has been classified as Red List (Low Evidence).
Mendeliome v0.13050 PPP1R3A Zornitza Stark reviewed gene: PPP1R3A: Rating: RED; Mode of pathogenicity: None; Publications: 29948331, 12118251, 18232732; Phenotypes: Insulin resistance, severe, digenic 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13050 PRCD Zornitza Stark Gene: prcd has been classified as Green List (High Evidence).
Mendeliome v0.13050 PRCD Zornitza Stark Phenotypes for gene: PRCD were changed from to Retinitis pigmentosa 36, MIM# 610599
Mendeliome v0.13049 PRCD Zornitza Stark Publications for gene: PRCD were set to
Mendeliome v0.13048 PRCD Zornitza Stark Mode of inheritance for gene: PRCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13047 PRCD Zornitza Stark reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16938425, 20507925, 33087780, 31640229, 31189593, 26497376; Phenotypes: Retinitis pigmentosa 36, MIM# 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13047 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13047 PRDM16 Zornitza Stark Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Mendeliome v0.13046 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to
Mendeliome v0.13045 PRDM16 Zornitza Stark Mode of inheritance for gene: PRDM16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13044 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Mendeliome v0.13044 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13043 PRDM16 Zornitza Stark reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 23768516, 29367541, 34915728, 31965688, 29367541; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13043 CFD Ain Roesley Gene: cfd has been classified as Green List (High Evidence).
Mendeliome v0.13043 CFD Ain Roesley Phenotypes for gene: CFD were changed from to Complement factor D deficiency MIM#613912
Mendeliome v0.13042 CFD Ain Roesley Publications for gene: CFD were set to
Mendeliome v0.13041 CFD Ain Roesley Mode of inheritance for gene: CFD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13040 CFD Ain Roesley reviewed gene: CFD: Rating: GREEN; Mode of pathogenicity: None; Publications: 11457876, 16527897, 31440263; Phenotypes: Complement factor D deficiency MIM#613912; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13040 CEP78 Ain Roesley Gene: cep78 has been classified as Green List (High Evidence).
Mendeliome v0.13040 CEP78 Ain Roesley Phenotypes for gene: CEP78 were changed from to Cone-rod dystrophy and hearing loss MIM#617236
Mendeliome v0.13039 CEP78 Ain Roesley Publications for gene: CEP78 were set to
Mendeliome v0.13039 CEP78 Ain Roesley Mode of inheritance for gene: CEP78 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13038 CEP78 Ain Roesley reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: None; Publications: 28005958, 27588451, 27588452, 27627988; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13038 CEBPA Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
Mendeliome v0.13038 CEBPA Ain Roesley Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, somatic MIM#601626
Mendeliome v0.13038 CEBPA Ain Roesley Classified gene: CEBPA as Red List (low evidence)
Mendeliome v0.13038 CEBPA Ain Roesley Gene: cebpa has been classified as Red List (Low Evidence).
Mendeliome v0.13037 CEBPA Ain Roesley reviewed gene: CEBPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, somatic MIM#601626; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13037 CEACAM16 Ain Roesley Gene: ceacam16 has been classified as Green List (High Evidence).
Mendeliome v0.13037 CEACAM16 Ain Roesley Publications for gene: CEACAM16 were set to
Mendeliome v0.13037 CEACAM16 Ain Roesley Phenotypes for gene: CEACAM16 were changed from to Deafness, autosomal dominant 4B, MIM# 614614; Deafness, autosomal recessive 113, MIM# 618410
Mendeliome v0.13037 CEACAM16 Ain Roesley Mode of inheritance for gene: CEACAM16 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13036 CEACAM16 Ain Roesley reviewed gene: CEACAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 21368133, 22544735, 29703829, 25589040, 31249509, 30514912; Phenotypes: Deafness, autosomal dominant 4B, MIM# 614614, Deafness, autosomal recessive 113, MIM# 618410; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13036 CDKN2A Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
Mendeliome v0.13036 CDKN2A Ain Roesley Phenotypes for gene: CDKN2A were changed from to {Melanoma and neural system tumor syndrome} MIM#155755; {Melanoma, cutaneous malignant, 2} MIM#155601; {Melanoma-pancreatic cancer syndrome} MIM#606719
Mendeliome v0.13036 CDKN2A Ain Roesley Classified gene: CDKN2A as Red List (low evidence)
Mendeliome v0.13036 CDKN2A Ain Roesley Gene: cdkn2a has been classified as Red List (Low Evidence).
Mendeliome v0.13035 CDKN2A Ain Roesley reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma and neural system tumor syndrome} MIM#155755, {Melanoma, cutaneous malignant, 2} MIM#155601, {Melanoma-pancreatic cancer syndrome} MIM#606719; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13035 CDKN1B Ain Roesley Phenotypes for gene: CDKN1B were changed from to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Mendeliome v0.13034 CDKN1B Ain Roesley Publications for gene: CDKN1B were set to
Mendeliome v0.13034 CDKN1B Ain Roesley Mode of inheritance for gene: CDKN1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13033 CDKN1B Ain Roesley reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24819502, 17030811, 23555276; Phenotypes: Multiple endocrine neoplasia type 4, MEN4, OMIM #610755; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13033 CDK4 Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
Mendeliome v0.13033 CDK4 Ain Roesley Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3} MIM#609048
Mendeliome v0.13032 CDK4 Ain Roesley Classified gene: CDK4 as Red List (low evidence)
Mendeliome v0.13032 CDK4 Ain Roesley Gene: cdk4 has been classified as Red List (Low Evidence).
Mendeliome v0.13031 CDK4 Ain Roesley reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3} MIM#609048; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.13031 CDK10 Ain Roesley changed review comment from: >5 families; to: 6 families thus far
Mendeliome v0.13031 CDHR1 Ain Roesley Tag SV/CNV tag was added to gene: CDHR1.
Mendeliome v0.13031 CDK10 Ain Roesley Gene: cdk10 has been classified as Green List (High Evidence).
Mendeliome v0.13031 CDK10 Ain Roesley Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694
Mendeliome v0.13031 CDK10 Ain Roesley Publications for gene: CDK10 were set to
Mendeliome v0.13031 CDK10 Ain Roesley Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13030 CDK10 Ain Roesley reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341, 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13030 CDHR1 Ain Roesley Gene: cdhr1 has been classified as Green List (High Evidence).
Mendeliome v0.13030 CDHR1 Ain Roesley Phenotypes for gene: CDHR1 were changed from to Cone-rod dystrophy 15 MIM#613660; Retinitis pigmentosa 65 MIM#613660
Mendeliome v0.13029 CDHR1 Ain Roesley Publications for gene: CDHR1 were set to
Mendeliome v0.13029 CDHR1 Ain Roesley Mode of inheritance for gene: CDHR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13028 CDHR1 Ain Roesley reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20805371, 20087419, 34926197, 32277948, 32783370, 31387115, 32681094; Phenotypes: Cone-rod dystrophy 15 MIM#613660, Retinitis pigmentosa 65 MIM#613660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13028 CDC73 Ain Roesley Gene: cdc73 has been classified as Green List (High Evidence).
Mendeliome v0.13028 CDC73 Ain Roesley Publications for gene: CDC73 were set to
Mendeliome v0.13028 CDC73 Ain Roesley Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Mendeliome v0.13028 CDC73 Ain Roesley Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13027 CDC73 Ain Roesley reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434154; Phenotypes: Hyperparathyroidism-jaw tumour syndrome, MIM# 145001, Hyperparathyroidism, familial primary, MIM# 145000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13027 CDC42 Ain Roesley Phenotypes for gene: CDC42 were changed from Takenouchi-Kosaki syndrome, MIM#616737 to Takenouchi-Kosaki syndrome, MIM#616737
Mendeliome v0.13026 CDC42 Ain Roesley Publications for gene: CDC42 were set to 29394990; 31601675; 32303876; 32231661
Mendeliome v0.13026 CDC42 Ain Roesley Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737
Mendeliome v0.13025 CDC42 Ain Roesley Publications for gene: CDC42 were set to
Mendeliome v0.13025 CDC42 Ain Roesley Gene: cdc42 has been classified as Green List (High Evidence).
Mendeliome v0.13025 CDC42 Ain Roesley Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13024 CDC42 Ain Roesley reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: 29394990, 31601675, 32303876, 32231661; Phenotypes: Takenouchi-Kosaki syndrome, MIM#616737; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.13024 CDC14A Ain Roesley Gene: cdc14a has been classified as Green List (High Evidence).
Mendeliome v0.13024 CDC14A Ain Roesley Phenotypes for gene: CDC14A were changed from to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653
Mendeliome v0.13023 CDC14A Ain Roesley Publications for gene: CDC14A were set to
Mendeliome v0.13023 CDC14A Ain Roesley Mode of inheritance for gene: CDC14A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13022 CDC14A Ain Roesley reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 2725905; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13022 CD79B Ain Roesley Gene: cd79b has been classified as Green List (High Evidence).
Mendeliome v0.13022 CD79B Ain Roesley Phenotypes for gene: CD79B were changed from to Agammaglobulinemia 6 MIM#612692
Mendeliome v0.13022 CD79B Ain Roesley Publications for gene: CD79B were set to
Mendeliome v0.13021 CD79B Ain Roesley Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13020 CD79B Ain Roesley reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17709424, 17675462, 33733381, 24722855; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.13020 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Mendeliome v0.13020 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from to Brittle cornea syndrome 2, MIM# 614170
Mendeliome v0.13019 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Mendeliome v0.13018 PRDM5 Zornitza Stark Mode of inheritance for gene: PRDM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13017 PRDM5 Zornitza Stark reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21664999, 22122778, 21664999, 33739556, 27032025; Phenotypes: Brittle cornea syndrome 2, MIM# 614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13017 PREPL Zornitza Stark Gene: prepl has been classified as Green List (High Evidence).
Mendeliome v0.13017 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Mendeliome v0.13016 PREPL Zornitza Stark Publications for gene: PREPL were set to
Mendeliome v0.13015 PREPL Zornitza Stark Mode of inheritance for gene: PREPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13014 PRG4 Zornitza Stark Gene: prg4 has been classified as Green List (High Evidence).
Mendeliome v0.13014 PRG4 Zornitza Stark Phenotypes for gene: PRG4 were changed from to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250
Mendeliome v0.13013 PRG4 Zornitza Stark Publications for gene: PRG4 were set to
Mendeliome v0.13012 PRG4 Zornitza Stark Mode of inheritance for gene: PRG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13011 PRG4 Zornitza Stark reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950, 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13011 PRICKLE2 Zornitza Stark Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder, global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. to Neurodevelopmental disorder, MONDO:0700092; global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder.
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
Mendeliome v0.13009 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Mendeliome v0.13008 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13007 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Mendeliome v0.13007 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Mendeliome v0.13006 PRKAR1A Zornitza Stark Publications for gene: PRKAR1A were set to
Mendeliome v0.13005 PRKAR1A Zornitza Stark Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13004 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973256, 11115848, 12424709, 21651393; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13004 PRKCG Zornitza Stark Gene: prkcg has been classified as Green List (High Evidence).
Mendeliome v0.13004 PRKCG Zornitza Stark Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, MIM# 605361
Mendeliome v0.13003 PRKCG Zornitza Stark Publications for gene: PRKCG were set to
Mendeliome v0.13002 PRKCG Zornitza Stark Mode of inheritance for gene: PRKCG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13001 PRKCG Zornitza Stark reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12644968, 14676051, 14694043, 16193476, 33739604, 34292398; Phenotypes: Spinocerebellar ataxia 14, MIM# 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13001 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Mendeliome v0.13001 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
Mendeliome v0.13000 PRKG1 Zornitza Stark Publications for gene: PRKG1 were set to
Mendeliome v0.12999 PRKG1 Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12998 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 23910461, 30577811; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12998 PRMT7 Zornitza Stark Marked gene: PRMT7 as ready
Mendeliome v0.12998 PRMT7 Zornitza Stark Gene: prmt7 has been classified as Green List (High Evidence).
Mendeliome v0.12998 PRMT7 Zornitza Stark Phenotypes for gene: PRMT7 were changed from to Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157
Mendeliome v0.12997 PRMT7 Zornitza Stark Publications for gene: PRMT7 were set to
Mendeliome v0.12996 PRMT7 Zornitza Stark Mode of inheritance for gene: PRMT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12995 PRMT7 Zornitza Stark reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 27718516, 30513135; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12995 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Mendeliome v0.12995 PRODH Zornitza Stark Phenotypes for gene: PRODH were changed from to Hyperprolinaemia, type I 239500; Proline oxidase deficiency
Mendeliome v0.12994 PRODH Zornitza Stark Publications for gene: PRODH were set to
Mendeliome v0.12993 PRODH Zornitza Stark Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12992 PROK2 Zornitza Stark Gene: prok2 has been classified as Green List (High Evidence).
Mendeliome v0.12992 PROK2 Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
Mendeliome v0.12991 PROK2 Zornitza Stark Publications for gene: PROK2 were set to
Mendeliome v0.12990 PROK2 Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12989 PROK2 Zornitza Stark reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12989 PROM1 Zornitza Stark Gene: prom1 has been classified as Green List (High Evidence).
Mendeliome v0.12989 PROM1 Zornitza Stark Phenotypes for gene: PROM1 were changed from to Inherited retinal dystrophy, MONDO:0019118; Cone-rod dystrophy 12, MIM# 612657; Macular dystrophy, retinal, 2, MI# 608051; Retinitis pigmentosa 41, MIM# 612095; Stargardt disease 4, MIM# 603786
Mendeliome v0.12988 PROM1 Zornitza Stark Publications for gene: PROM1 were set to
Mendeliome v0.12987 PROM1 Zornitza Stark Mode of inheritance for gene: PROM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12986 PROM1 Zornitza Stark reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587575, 17605048, 18654668, 29416601, 31576780, 34664634, 32820593; Phenotypes: Inherited retinal dystrophy, MONDO:0019118, Cone-rod dystrophy 12, MIM# 612657, Macular dystrophy, retinal, 2, MI# 608051, Retinitis pigmentosa 41, MIM# 612095, Stargardt disease 4, MIM# 603786; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12986 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Mendeliome v0.12986 PROS1 Zornitza Stark Phenotypes for gene: PROS1 were changed from to Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Mendeliome v0.12985 PROS1 Zornitza Stark Publications for gene: PROS1 were set to
Mendeliome v0.12984 PROS1 Zornitza Stark Mode of inheritance for gene: PROS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12983 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7545463, 19466456, 10063989, 20484936, 19729839; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12983 PRPF3 Zornitza Stark Gene: prpf3 has been classified as Green List (High Evidence).
Mendeliome v0.12983 PRPF3 Zornitza Stark Phenotypes for gene: PRPF3 were changed from to Retinitis pigmentosa 18, MIM# 601414
Mendeliome v0.12982 PRPF3 Zornitza Stark Publications for gene: PRPF3 were set to
Mendeliome v0.12981 PRPF3 Zornitza Stark Mode of inheritance for gene: PRPF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12980 PRPF3 Zornitza Stark reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11773002, 27886254; Phenotypes: Retinitis pigmentosa 18, MIM# 601414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12980 PRPF4 Zornitza Stark Gene: prpf4 has been classified as Green List (High Evidence).
Mendeliome v0.12980 PRPF4 Zornitza Stark Phenotypes for gene: PRPF4 were changed from to Retinitis pigmentosa 70, MIM# 615922
Mendeliome v0.12979 PRPF4 Zornitza Stark Publications for gene: PRPF4 were set to
Mendeliome v0.12978 PRPF4 Zornitza Stark Mode of inheritance for gene: PRPF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12977 PRPF4 Zornitza Stark reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24419317, 25383878; Phenotypes: Retinitis pigmentosa 70, MIM# 615922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12977 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12977 PRPF6 Zornitza Stark Phenotypes for gene: PRPF6 were changed from to Retinitis pigmentosa 60, MIM# 613983
Mendeliome v0.12976 PRPF6 Zornitza Stark Publications for gene: PRPF6 were set to
Mendeliome v0.12975 PRPF6 Zornitza Stark Mode of inheritance for gene: PRPF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12974 PRPF6 Zornitza Stark Classified gene: PRPF6 as Amber List (moderate evidence)
Mendeliome v0.12974 PRPF6 Zornitza Stark Gene: prpf6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12973 PRPF6 Zornitza Stark reviewed gene: PRPF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21549338, 32335390; Phenotypes: Retinitis pigmentosa 60, MIM# 613983; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12973 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12973 PRPH Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Mendeliome v0.12972 PRPH Zornitza Stark Publications for gene: PRPH were set to
Mendeliome v0.12971 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12970 PRPH Zornitza Stark Classified gene: PRPH as Amber List (moderate evidence)
Mendeliome v0.12970 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12969 PRPH Zornitza Stark reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20363051, 15322088, 15446584; Phenotypes: {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12969 PRSS1 Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence).
Mendeliome v0.12969 PRSS1 Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800
Mendeliome v0.12968 PRSS1 Zornitza Stark Publications for gene: PRSS1 were set to
Mendeliome v0.12967 PRSS1 Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12966 PRSS1 Zornitza Stark Tag SV/CNV tag was added to gene: PRSS1.
Mendeliome v0.12966 PRSS1 Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12966 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12966 PRSS12 Zornitza Stark Phenotypes for gene: PRSS12 were changed from to Intellectual disability, PRSS12 related MIM#249500
Mendeliome v0.12965 PRSS12 Zornitza Stark Publications for gene: PRSS12 were set to
Mendeliome v0.12964 PRSS12 Zornitza Stark Mode of inheritance for gene: PRSS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12963 PRSS12 Zornitza Stark Classified gene: PRSS12 as Amber List (moderate evidence)
Mendeliome v0.12963 PRSS12 Zornitza Stark Gene: prss12 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12962 PRSS12 Zornitza Stark reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12962 PSMC2 Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
Mendeliome v0.12962 PSMC2 Zornitza Stark Classified gene: PSMC2 as Red List (low evidence)
Mendeliome v0.12962 PSMC2 Zornitza Stark Gene: psmc2 has been classified as Red List (Low Evidence).
Mendeliome v0.12961 PSMC2 Zornitza Stark reviewed gene: PSMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12961 PSMC3IP Zornitza Stark Gene: psmc3ip has been classified as Green List (High Evidence).
Mendeliome v0.12961 PSMC3IP Zornitza Stark Phenotypes for gene: PSMC3IP were changed from to Ovarian dysgenesis 3, MIM# 614324
Mendeliome v0.12960 PSMC3IP Zornitza Stark Publications for gene: PSMC3IP were set to
Mendeliome v0.12959 PSMC3IP Zornitza Stark Mode of inheritance for gene: PSMC3IP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12958 PSMC3IP Zornitza Stark reviewed gene: PSMC3IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21963259, 35352317, 34878148, 30406445, 29240891; Phenotypes: Ovarian dysgenesis 3, MIM# 614324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12958 PSMD12 Zornitza Stark Gene: psmd12 has been classified as Green List (High Evidence).
Mendeliome v0.12958 PSMD12 Zornitza Stark Phenotypes for gene: PSMD12 were changed from to Stankiewicz-Isidor syndrome, MIM# 617516
Mendeliome v0.12957 PSMD12 Zornitza Stark Publications for gene: PSMD12 were set to
Mendeliome v0.12956 PSMD12 Zornitza Stark Mode of inheritance for gene: PSMD12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12955 PSMD12 Zornitza Stark reviewed gene: PSMD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132691, 34906456; Phenotypes: Stankiewicz-Isidor syndrome, MIM# 617516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12955 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Mendeliome v0.12955 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.12954 PSPH Zornitza Stark Publications for gene: PSPH were set to
Mendeliome v0.12953 PSPH Zornitza Stark Mode of inheritance for gene: PSPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Mendeliome v0.12952 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Mendeliome v0.12951 PSTPIP1 Zornitza Stark Publications for gene: PSTPIP1 were set to
Mendeliome v0.12950 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12949 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12949 PTGDR Zornitza Stark Marked gene: PTGDR as ready
Mendeliome v0.12949 PTGDR Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
Mendeliome v0.12949 PTGDR Zornitza Stark Phenotypes for gene: PTGDR were changed from to {Asthma, susceptibility to, 1} 607277
Mendeliome v0.12948 PTGDR Zornitza Stark Mode of inheritance for gene: PTGDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12947 PTGDR Zornitza Stark Classified gene: PTGDR as Red List (low evidence)
Mendeliome v0.12947 PTGDR Zornitza Stark Gene: ptgdr has been classified as Red List (Low Evidence).
Mendeliome v0.12946 PTGDR Zornitza Stark reviewed gene: PTGDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Asthma, susceptibility to, 1} 607277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12946 PTH Zornitza Stark Marked gene: PTH as ready
Mendeliome v0.12946 PTH Zornitza Stark Gene: pth has been classified as Green List (High Evidence).
Mendeliome v0.12946 PTH Zornitza Stark Phenotypes for gene: PTH were changed from to Hypoparathyroidism, familial isolated 1, MIM# 146200
Mendeliome v0.12945 PTH Zornitza Stark Publications for gene: PTH were set to
Mendeliome v0.12944 PTH Zornitza Stark Mode of inheritance for gene: PTH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12943 PTH Zornitza Stark reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: None; Publications: 2212001, 1302009, 10523031, 35165722, 32421798; Phenotypes: Hypoparathyroidism, familial isolated 1, MIM# 146200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12943 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Mendeliome v0.12943 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Mendeliome v0.12943 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045
Mendeliome v0.12942 PTH1R Zornitza Stark Publications for gene: PTH1R were set to
Mendeliome v0.12941 PTH1R Zornitza Stark edited their review of gene: PTH1R: Changed publications: 7701349, 8855805, 17164305, 15525660, 19061984
Mendeliome v0.12941 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12940 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12940 PTHLH Zornitza Stark Marked gene: PTHLH as ready
Mendeliome v0.12940 PTHLH Zornitza Stark Gene: pthlh has been classified as Green List (High Evidence).
Mendeliome v0.12940 PTHLH Zornitza Stark Phenotypes for gene: PTHLH were changed from to Brachydactyly, type E2, MIM# 613382
Mendeliome v0.12939 PTHLH Zornitza Stark Publications for gene: PTHLH were set to
Mendeliome v0.12938 PTHLH Zornitza Stark Mode of inheritance for gene: PTHLH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12937 PTHLH Zornitza Stark reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20015959, 34897794, 29947179, 28211986; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12937 PTPN14 Zornitza Stark Marked gene: PTPN14 as ready
Mendeliome v0.12937 PTPN14 Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence).
Mendeliome v0.12937 PTPN14 Zornitza Stark Phenotypes for gene: PTPN14 were changed from to Choanal atresia and lymphoedema, MIM# 613611
Mendeliome v0.12936 PTPN14 Zornitza Stark Publications for gene: PTPN14 were set to
Mendeliome v0.12935 PTPN14 Zornitza Stark Mode of inheritance for gene: PTPN14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12934 PTPN14 Zornitza Stark reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20826270; Phenotypes: Choanal atresia and lymphoedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12934 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.12933 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mendeliome v0.12933 GCNA Zornitza Stark Phenotypes for gene: GCNA were changed from Spermatogenic failure, X-linked, 4, MIM# 301077 to Spermatogenic failure, X-linked, 4, MIM# 301077
Mendeliome v0.12933 GCNA Zornitza Stark Phenotypes for gene: GCNA were changed from primary spermatogenic failure to Spermatogenic failure, X-linked, 4, MIM# 301077
Mendeliome v0.12932 GCNA Zornitza Stark reviewed gene: GCNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure, X-linked, 4, MIM# 301077; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12932 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Mendeliome v0.12931 TCF3 Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Mendeliome v0.12931 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset to Deafness, X-linked 4, MIM# 300066; Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Mendeliome v0.12930 SMPX Zornitza Stark edited their review of gene: SMPX: Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075
Mendeliome v0.12930 PTPN22 Zornitza Stark Marked gene: PTPN22 as ready
Mendeliome v0.12930 PTPN22 Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
Mendeliome v0.12930 PTPN22 Zornitza Stark Mode of inheritance for gene: PTPN22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12929 PTPN22 Zornitza Stark Classified gene: PTPN22 as Red List (low evidence)
Mendeliome v0.12929 PTPN22 Zornitza Stark Gene: ptpn22 has been classified as Red List (Low Evidence).
Mendeliome v0.12928 PTPN22 Zornitza Stark reviewed gene: PTPN22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12928 PTPRO Zornitza Stark Marked gene: PTPRO as ready
Mendeliome v0.12928 PTPRO Zornitza Stark Gene: ptpro has been classified as Green List (High Evidence).
Mendeliome v0.12928 PTPRO Zornitza Stark Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196
Mendeliome v0.12927 PTPRO Zornitza Stark Publications for gene: PTPRO were set to
Mendeliome v0.12926 PTPRO Zornitza Stark Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12925 PTPRO Zornitza Stark reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12925 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Mendeliome v0.12925 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Mendeliome v0.12925 PTRH2 Zornitza Stark Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263
Mendeliome v0.12924 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Mendeliome v0.12923 PTRH2 Zornitza Stark Mode of inheritance for gene: PTRH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12922 PTRH2 Zornitza Stark Deleted their comment
Mendeliome v0.12922 PTRH2 Zornitza Stark commented on gene: PTRH2: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.
Mendeliome v0.12922 PTS Zornitza Stark Marked gene: PTS as ready
Mendeliome v0.12922 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Mendeliome v0.12922 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Mendeliome v0.12921 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12920 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12920 PUM1 Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence).
Mendeliome v0.12920 PUM1 Zornitza Stark Phenotypes for gene: PUM1 were changed from to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related
Mendeliome v0.12919 PUM1 Zornitza Stark Publications for gene: PUM1 were set to
Mendeliome v0.12918 PUM1 Zornitza Stark Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12917 PUM1 Zornitza Stark reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474920, 25768905, 30903679, 31859446; Phenotypes: Spinocerebellar ataxia 47, MIM# 617931, Neurodevelopmental disorder, MONDO:0700092, PUM1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12917 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Mendeliome v0.12917 PYCR2 Zornitza Stark Phenotypes for gene: PYCR2 were changed from to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Mendeliome v0.12916 PYCR2 Zornitza Stark Publications for gene: PYCR2 were set to
Mendeliome v0.12915 F12 Bryony Thompson Mode of pathogenicity for gene: F12 was changed from to Other
Mendeliome v0.12915 PYCR2 Zornitza Stark Mode of inheritance for gene: PYCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12914 PYCR2 Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12914 F12 Bryony Thompson Mode of inheritance for gene: F12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12913 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
Mendeliome v0.12913 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from to Myopathy, myofibrillar, 8 , MIM#617258
Mendeliome v0.12912 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Mendeliome v0.12911 PYROXD1 Zornitza Stark Mode of inheritance for gene: PYROXD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12910 F12 Bryony Thompson commented on gene: F12: Also associated with FXII deficiency - PMID: 29383625, 20022356, 18024408, 20386432, 26709783, 21264442, 28007010, 15205584, 30700128 - Biallalelic loss-of-function variants are a well-established cause of FXII deficiency. FXII deficiency is not associated with bleeding risk unlike other coagulation factors, it is either asymptomatic or characterized by a prolonged activated partial thromboplastin time. DEFINITIVE gene-disease validity classification by the ClinGen Hemostasis Thrombosis VCEP, Classification - 01/22/2020
Mendeliome v0.12910 PYROXD1 Zornitza Stark reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745833; Phenotypes: Myopathy, myofibrillar, 8 , MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12910 F12 Bryony Thompson reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26193639, 16638441, 17381464, 21849258, 17186468, 19178938, 30463937, 23994767; Phenotypes: Hereditary angioedema type 3 MONDO:0012526; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12910 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Mendeliome v0.12910 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Mendeliome v0.12909 SGCD Zornitza Stark Publications for gene: SGCD were set to
Mendeliome v0.12908 SGCD Zornitza Stark Mode of inheritance for gene: SGCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12907 SGCD Zornitza Stark changed review comment from: Association with LGMD is DEFINITIVE by ClinGen.; to: Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported.
Mendeliome v0.12907 SGCD Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12907 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Mendeliome v0.12907 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Mendeliome v0.12906 SGCB Zornitza Stark Publications for gene: SGCB were set to
Mendeliome v0.12905 SGCB Zornitza Stark Mode of inheritance for gene: SGCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12904 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Mendeliome v0.12904 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Mendeliome v0.12903 SGCA Zornitza Stark Publications for gene: SGCA were set to
Mendeliome v0.12902 SGCA Zornitza Stark Mode of inheritance for gene: SGCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12901 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Mendeliome v0.12901 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Mendeliome v0.12900 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
Mendeliome v0.12899 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12898 SFRP4 Zornitza Stark Gene: sfrp4 has been classified as Green List (High Evidence).
Mendeliome v0.12898 SFRP4 Zornitza Stark Phenotypes for gene: SFRP4 were changed from to Pyle disease, MIM#265900
Mendeliome v0.12897 SFRP4 Zornitza Stark Publications for gene: SFRP4 were set to
Mendeliome v0.12896 SFRP4 Zornitza Stark Mode of inheritance for gene: SFRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12895 SFRP4 Zornitza Stark reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12895 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Mendeliome v0.12895 RASGRP1 Zornitza Stark Phenotypes for gene: RASGRP1 were changed from to Immunodeficiency 64 (MIM#618534)
Mendeliome v0.12894 RASGRP1 Zornitza Stark Publications for gene: RASGRP1 were set to
Mendeliome v0.12893 RASGRP1 Zornitza Stark Mode of inheritance for gene: RASGRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12892 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.12892 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from PDCD1 deficiency to PDCD1 deficiency; Inborn errors of immunity, MONDO:0003778
Mendeliome v0.12891 PDCD1 Zornitza Stark Phenotypes for gene: PDCD1 were changed from to PDCD1 deficiency
Mendeliome v0.12890 PDCD1 Zornitza Stark Publications for gene: PDCD1 were set to
Mendeliome v0.12889 PDCD1 Zornitza Stark Mode of inheritance for gene: PDCD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12888 PDCD1 Zornitza Stark Classified gene: PDCD1 as Red List (low evidence)
Mendeliome v0.12888 PDCD1 Zornitza Stark Gene: pdcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.12887 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Mendeliome v0.12887 PCK2 Zornitza Stark Phenotypes for gene: PCK2 were changed from to PEPCK deficiency, mitochondrial - MIM#261650
Mendeliome v0.12886 PCK2 Zornitza Stark Mode of inheritance for gene: PCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12885 PCK2 Zornitza Stark Classified gene: PCK2 as Red List (low evidence)
Mendeliome v0.12885 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Mendeliome v0.12884 CD79A Zornitza Stark Phenotypes for gene: CD79A were changed from Agammaglobulinemia 3 MIM#613501 to Agammaglobulinaemia 3 MIM#613501
Mendeliome v0.12883 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Mendeliome v0.12883 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidaemia - MIM#606054
Mendeliome v0.12882 PCCB Zornitza Stark Publications for gene: PCCB were set to
Mendeliome v0.12881 PCCB Zornitza Stark Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12880 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Mendeliome v0.12880 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidaemia - MIM#606054
Mendeliome v0.12879 PCCA Zornitza Stark Publications for gene: PCCA were set to
Mendeliome v0.12878 PCCA Zornitza Stark Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12877 FXR1 Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948 to Congenital multi-minicore myopathy; myopathy, congenital proximal, with minicore lesions MONDO:0032937
Mendeliome v0.12876 FXR1 Bryony Thompson Phenotypes for gene: FXR1 were changed from Congenital multi-minicore myopathy to Congenital multi-minicore myopathy; multiminicore myopathy MONDO:0018948
Mendeliome v0.12875 FZD5 Bryony Thompson Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma MONDO:0001476
Mendeliome v0.12874 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mendeliome v0.12874 PC Zornitza Stark Phenotypes for gene: PC were changed from to Pyruvate carboxylase deficiency - MIM#266150
Mendeliome v0.12873 PC Zornitza Stark Publications for gene: PC were set to
Mendeliome v0.12872 PC Zornitza Stark Mode of inheritance for gene: PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12871 PAX9 Zornitza Stark Gene: pax9 has been classified as Green List (High Evidence).
Mendeliome v0.12871 PAX9 Zornitza Stark Phenotypes for gene: PAX9 were changed from to Tooth agenesis, selective, 3 - MIM#604625
Mendeliome v0.12870 PAX9 Zornitza Stark Publications for gene: PAX9 were set to
Mendeliome v0.12869 PAX9 Zornitza Stark Mode of inheritance for gene: PAX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12868 CD209 Zornitza Stark Mode of inheritance for gene: CD209 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12867 CCR2 Zornitza Stark Mode of inheritance for gene: CCR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12866 SET Zornitza Stark Marked gene: SET as ready
Mendeliome v0.12866 SET Zornitza Stark Gene: set has been classified as Green List (High Evidence).
Mendeliome v0.12866 SET Zornitza Stark Phenotypes for gene: SET were changed from to Intellectual developmental disorder, autosomal dominant 58, MIM#618106; intellectual disability, autosomal dominant 58, MONDO:0020847
Mendeliome v0.12865 SET Zornitza Stark Publications for gene: SET were set to
Mendeliome v0.12864 SET Zornitza Stark Mode of inheritance for gene: SET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12863 SERPING1 Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
Mendeliome v0.12863 SERPING1 Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790
Mendeliome v0.12862 SERPING1 Zornitza Stark Publications for gene: SERPING1 were set to
Mendeliome v0.12861 SERPING1 Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12860 FAM149B1 Bryony Thompson Phenotypes for gene: FAM149B1 were changed from Joubert; Ciliopathy to Joubert syndrome 36 MONDO:0032902; Ciliopathy
Mendeliome v0.12859 SGCD Samantha Ayres edited their review of gene: SGCD: Added comment: Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease.
First described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018).
Case-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort.

Animal models demonstrate mild cardiomyopathy phenotype.

Curated as 'limited' gene-disease association by ClinGen; Changed rating: RED; Changed publications: 10974018, 31983221, 23695275; Changed phenotypes: Cardiomyopathy, dilated, 1L, MIM#606685, dilated cardiomyopathy MONDO:0005021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12859 SGCD Samantha Ayres reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 30733730, 10838250; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM#601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SGCB Samantha Ayres reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18285821; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SGCA Samantha Ayres reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SFXN4 Samantha Ayres reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SFRP4 Samantha Ayres reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27355534, 31239337; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12859 SERPIND1 Zornitza Stark Gene: serpind1 has been classified as Green List (High Evidence).
Mendeliome v0.12859 SERPIND1 Zornitza Stark Phenotypes for gene: SERPIND1 were changed from to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356
Mendeliome v0.12858 SERPIND1 Zornitza Stark Publications for gene: SERPIND1 were set to
Mendeliome v0.12857 SERPIND1 Zornitza Stark Mode of inheritance for gene: SERPIND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12856 NOVA2 Zornitza Stark Phenotypes for gene: NOVA2 were changed from Intellectual disability; autism; hypotonia; spasticity; ataxia to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Mendeliome v0.12855 NOVA2 Zornitza Stark edited their review of gene: NOVA2: Changed phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
Mendeliome v0.12855 RASGRP1 Crystle Lee reviewed gene: RASGRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30030704, 29155103, 28822832, 17675473; Phenotypes: Immunodeficiency 64 (MIM#618534); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12855 PDCD1 Krithika Murali changed review comment from: No OMIM gene disease association.

1 individual from a consanguineous family reported with PDCD1 deficiency.

PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.; to: No OMIM gene disease association.

1 individual from a consanguineous family reported with PDCD1 deficiency.

PMID: 34183838 (Nat Medicine 2021) - proband is the son of consanguineous Turkish parents. He was diagnosed with type 1 diabetes (T1D), hypothyroidism, and juvenile idiopathic arthritis (JIA) at the age of three years. He developed abdominal TB age 10 and died from pulmonary alveolar haemorrhage age 11. WES identified homozygous intragenic PDCD1 gene duplication (c.105dupC p.T36Hfs*70). Absent from population databases and unaffected parents confirmed to be heterozygous. Supportive in vitro studies showing absent expression or function of PD-1 protein. Proband's older brother died at the age of 3 from unexplained pneumonitis and had a history of T1DM and juvenile idiopathic arthritis.
Mendeliome v0.12855 PDCD1 Krithika Murali reviewed gene: PDCD1: Rating: RED; Mode of pathogenicity: None; Publications: 34183838; Phenotypes: ?PDCD1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12855 PCK2 Krithika Murali reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEPCK deficiency, mitochondrial - MIM#261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12855 CD79A Ain Roesley Gene: cd79a has been classified as Green List (High Evidence).
Mendeliome v0.12855 CD79A Ain Roesley Phenotypes for gene: CD79A were changed from to Agammaglobulinemia 3 MIM#613501
Mendeliome v0.12854 CD79A Ain Roesley Publications for gene: CD79A were set to
Mendeliome v0.12854 CD79A Ain Roesley Mode of inheritance for gene: CD79A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12853 CD79A Ain Roesley reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29335801, 31696364, 24481606, 10525050, 11920841; Phenotypes: Agammaglobulinemia 3 MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12853 PCCB Krithika Murali reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12853 CD70 Ain Roesley Gene: cd70 has been classified as Green List (High Evidence).
Mendeliome v0.12853 CD70 Ain Roesley Phenotypes for gene: CD70 were changed from to Lymphoproliferative syndrome 3, MIM# 618261
Mendeliome v0.12852 CD70 Ain Roesley Publications for gene: CD70 were set to
Mendeliome v0.12852 CD70 Ain Roesley Mode of inheritance for gene: CD70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12851 PCCA Krithika Murali reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12851 CD70 Ain Roesley reviewed gene: CD70: Rating: GREEN; Mode of pathogenicity: None; Publications: 28011864, 28011863; Phenotypes: Lymphoproliferative syndrome 3, MIM# 618261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12851 CD55 Ain Roesley Gene: cd55 has been classified as Green List (High Evidence).
Mendeliome v0.12851 CD55 Ain Roesley Phenotypes for gene: CD55 were changed from to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Mendeliome v0.12850 CD55 Ain Roesley Publications for gene: CD55 were set to
Mendeliome v0.12850 CD55 Ain Roesley Mode of inheritance for gene: CD55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12849 CD55 Ain Roesley reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: 28657829, 28657861; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12849 CD46 Ain Roesley Gene: cd46 has been classified as Green List (High Evidence).
Mendeliome v0.12849 CD46 Ain Roesley Phenotypes for gene: CD46 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922
Mendeliome v0.12849 CD46 Ain Roesley Publications for gene: CD46 were set to
Mendeliome v0.12849 CD46 Ain Roesley Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12848 CD46 Ain Roesley reviewed gene: CD46: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301541, 26054645, 26826462; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 2} MIM#612922; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12848 PC Krithika Murali reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9585612, 12112657; Phenotypes: Pyruvate carboxylase deficiency - MIM#266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12848 CD40 Ain Roesley Gene: cd40 has been classified as Green List (High Evidence).
Mendeliome v0.12848 CD40 Ain Roesley Phenotypes for gene: CD40 were changed from to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Mendeliome v0.12847 CD40 Ain Roesley Publications for gene: CD40 were set to
Mendeliome v0.12847 CD40 Ain Roesley Mode of inheritance for gene: CD40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12846 CD40 Ain Roesley reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: 11675497, 12915844; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12846 CD36 Ain Roesley Gene: cd36 has been classified as Green List (High Evidence).
Mendeliome v0.12846 CD36 Ain Roesley Phenotypes for gene: CD36 were changed from to Platelet glycoprotein IV deficiency MIM#608404; {Malaria, cerebral, reduced risk of} MIM#611162; {Malaria, cerebral, susceptibility to} MIM#611162
Mendeliome v0.12845 CD36 Ain Roesley Publications for gene: CD36 were set to
Mendeliome v0.12845 CD36 Ain Roesley Mode of inheritance for gene: CD36 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12844 CD36 Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7686693, 11950861, 10890433, 24960640, 10890433; Phenotypes: Platelet glycoprotein IV deficiency MIM#608404, {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12844 CD36 Ain Roesley Deleted their review
Mendeliome v0.12844 CD36 Ain Roesley reviewed gene: CD36: Rating: GREEN; Mode of pathogenicity: None; Publications: 7533783, 11950861, 10890433, 12506336; Phenotypes: {Malaria, cerebral, reduced risk of} MIM#611162, {Malaria, cerebral, susceptibility to} MIM#611162, Platelet glycoprotein IV deficiency MIM#608404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12844 CD209 Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
Mendeliome v0.12844 CD209 Ain Roesley Phenotypes for gene: CD209 were changed from to {Dengue fever, protection against} MIM#614371; {HIV type 1, susceptibility to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948
Mendeliome v0.12844 CD209 Ain Roesley Classified gene: CD209 as Red List (low evidence)
Mendeliome v0.12844 CD209 Ain Roesley Gene: cd209 has been classified as Red List (Low Evidence).
Mendeliome v0.12843 CD209 Ain Roesley reviewed gene: CD209: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dengue fever, protection against} MIM#614371, {HIV type 1, susceptibility to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.12843 CD151 Ain Roesley Gene: cd151 has been classified as Green List (High Evidence).
Mendeliome v0.12843 CD151 Ain Roesley Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Mendeliome v0.12842 CD151 Ain Roesley Publications for gene: CD151 were set to
Mendeliome v0.12842 CD151 Ain Roesley Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12841 CD151 Ain Roesley reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: 15265795, 29138120; Phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12841 CCR5 Ain Roesley Gene: ccr5 has been classified as Green List (High Evidence).
Mendeliome v0.12841 CCR5 Ain Roesley Phenotypes for gene: CCR5 were changed from to {Hepatitis C virus, resistance to} 609532; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to}MIM# 610379
Mendeliome v0.12840 CCR5 Ain Roesley Mode of inheritance for gene: CCR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12839 CCR5 Ain Roesley reviewed gene: CCR5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hepatitis C virus, resistance to} 609532, {HIV infection, susceptibility/resistance to}, {West nile virus, susceptibility to}MIM# 610379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12839 CCR2 Ain Roesley Phenotypes for gene: CCR2 were changed from to {HIV infection, susceptibility/resistance to}
Mendeliome v0.12839 CCR2 Ain Roesley Publications for gene: CCR2 were set to
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed publications: 34516427, 17504215, 15167933, 17604544
Mendeliome v0.12838 CCR2 Ain Roesley changed review comment from: Currently no mendelian gene-disease association; to: Vall64Ile has been associated with reduction in the progression to AIDS. Mutant results in normal expression levels of the CCR2 receptor and has no effect on the incidence of HIV infection. However, in contrast to normal CCR2 peptides, the mutant protein preferentially dimerizes with the CXCR4 polypeptide, isolating it in the endoplasmic reticulum. It is also thought that the inhibitory effect is dependent on the stages of HIV-1 infection and interactions with other genetic variants.
Mendeliome v0.12838 CCR2 Ain Roesley edited their review of gene: CCR2: Changed phenotypes: {HIV infection, susceptibility/resistance to}
Mendeliome v0.12838 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12838 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12837 CCR2 Ain Roesley Classified gene: CCR2 as Red List (low evidence)
Mendeliome v0.12837 CCR2 Ain Roesley Gene: ccr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley Gene: ccr2 has been classified as Green List (High Evidence).
Mendeliome v0.12836 CCR2 Ain Roesley reviewed gene: CCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.12836 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Mendeliome v0.12836 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mendeliome v0.12835 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mendeliome v0.12834 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12833 SLC25A12 Zornitza Stark reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 35008954, 32700846, 31766059, 31514314; Phenotypes: Developmental and epileptic encephalopathy 39, MIM# 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12833 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Mendeliome v0.12833 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM# 605814; Citrullinemia, adult-onset type II, MIM# 603471
Mendeliome v0.12832 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Mendeliome v0.12831 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12830 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 21424115, 11343052; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814, Citrullinemia, adult-onset type II, MIM# 603471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12830 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Mendeliome v0.12830 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970
Mendeliome v0.12829 SLC25A15 Zornitza Stark Publications for gene: SLC25A15 were set to
Mendeliome v0.12828 SLC25A15 Zornitza Stark Mode of inheritance for gene: SLC25A15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12827 SLC25A15 Zornitza Stark reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369256, 19242930]; Phenotypes: Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12827 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Mendeliome v0.12827 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Mendeliome v0.12826 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Mendeliome v0.12825 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12824 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 31506564, 31295743, 12185364, 19798730; Phenotypes: Microcephaly, Amish type, MIM#607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12824 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Mendeliome v0.12824 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304
Mendeliome v0.12823 SLC25A22 Zornitza Stark Publications for gene: SLC25A22 were set to
Mendeliome v0.12822 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12821 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12821 TRPM1 Zornitza Stark Marked gene: TRPM1 as ready
Mendeliome v0.12821 TRPM1 Zornitza Stark Gene: trpm1 has been classified as Green List (High Evidence).
Mendeliome v0.12821 TRPM1 Zornitza Stark Phenotypes for gene: TRPM1 were changed from to Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216
Mendeliome v0.12820 TRPM1 Zornitza Stark Publications for gene: TRPM1 were set to
Mendeliome v0.12819 TRPM1 Zornitza Stark Mode of inheritance for gene: TRPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12818 TRPM1 Zornitza Stark reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12818 TRPC6 Zornitza Stark Marked gene: TRPC6 as ready
Mendeliome v0.12818 TRPC6 Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
Mendeliome v0.12818 TRPC6 Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
Mendeliome v0.12817 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to
Mendeliome v0.12816 TRPC6 Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12815 TRPC6 Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Green List (High Evidence).
Mendeliome v0.12815 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from to Spondyloepiphyseal dysplasia tarda, MIM# 313400
Mendeliome v0.12814 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Mendeliome v0.12813 TRAPPC2 Zornitza Stark Mode of inheritance for gene: TRAPPC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12812 TRAPPC2 Zornitza Stark reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12812 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Mendeliome v0.12812 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Mendeliome v0.12812 TRAPPC11 Zornitza Stark Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
Mendeliome v0.12811 TRAPPC11 Zornitza Stark Publications for gene: TRAPPC11 were set to
Mendeliome v0.12810 TRAPPC11 Zornitza Stark Mode of inheritance for gene: TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12809 TRAPPC11 Zornitza Stark reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12809 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mendeliome v0.12809 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mendeliome v0.12809 TRAK1 Zornitza Stark Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201
Mendeliome v0.12808 TRAK1 Zornitza Stark Publications for gene: TRAK1 were set to
Mendeliome v0.12807 TRAK1 Zornitza Stark Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12806 TRAK1 Zornitza Stark reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532, 28924745; Phenotypes: Developmental and epileptic encephalopathy 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12806 TPMT Zornitza Stark Marked gene: TPMT as ready
Mendeliome v0.12806 TPMT Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
Mendeliome v0.12806 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from to {Thiopurines, poor metabolism of, 1} 610460
Mendeliome v0.12805 TPMT Zornitza Stark Classified gene: TPMT as Red List (low evidence)
Mendeliome v0.12805 TPMT Zornitza Stark Gene: tpmt has been classified as Red List (Low Evidence).
Mendeliome v0.12804 TPMT Zornitza Stark reviewed gene: TPMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Thiopurines, poor metabolism of, 1} 610460; Mode of inheritance: None
Mendeliome v0.12804 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Mendeliome v0.12804 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Mendeliome v0.12804 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Mendeliome v0.12803 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Mendeliome v0.12802 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12801 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523, 26494905; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12801 TRMU Zornitza Stark Marked gene: TRMU as ready
Mendeliome v0.12801 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Mendeliome v0.12801 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Mendeliome v0.12800 TRMU Zornitza Stark Publications for gene: TRMU were set to
Mendeliome v0.12799 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12798 TRMU Zornitza Stark reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12798 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Mendeliome v0.12798 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
Mendeliome v0.12798 TRMT5 Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
Mendeliome v0.12797 TRMT5 Zornitza Stark Publications for gene: TRMT5 were set to
Mendeliome v0.12796 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12795 TRMT5 Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12795 EYS Bryony Thompson reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18836446, 18976725, 34689181; Phenotypes: retinitis pigmentosa 25 MONDO:0011272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12795 EXT1 Bryony Thompson Publications for gene: EXT1 were set to
Mendeliome v0.12794 EXT1 Bryony Thompson Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12793 ETV1 Bryony Thompson Marked gene: ETV1 as ready
Mendeliome v0.12793 ETV1 Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
Mendeliome v0.12793 EXT1 Bryony Thompson reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 8981950, 20534475; Phenotypes: hereditary multiple osteochondromas MONDO:0005508, exostoses, multiple, type 1 MONDO:0007585; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12793 ETV1 Bryony Thompson Publications for gene: ETV1 were set to
Mendeliome v0.12792 EXOC7 Bryony Thompson Phenotypes for gene: EXOC7 were changed from brain atrophy; seizures; developmental delay; microcephaly to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; brain atrophy; seizures; developmental delay; microcephaly
Mendeliome v0.12791 ETV1 Bryony Thompson Classified gene: ETV1 as Red List (low evidence)
Mendeliome v0.12791 ETV1 Bryony Thompson Gene: etv1 has been classified as Red List (Low Evidence).
Mendeliome v0.12790 EXOC3L2 Bryony Thompson Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation, MONDO:0009072; renal dysplasia; bone marrow failure
Mendeliome v0.12789 ETV1 Bryony Thompson reviewed gene: ETV1: Rating: RED; Mode of pathogenicity: None; Publications: 16254181, 34430591; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.12789 ETFDH Bryony Thompson Marked gene: ETFDH as ready
Mendeliome v0.12789 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Mendeliome v0.12789 ETFDH Bryony Thompson Phenotypes for gene: ETFDH were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Mendeliome v0.12788 ETFDH Bryony Thompson Publications for gene: ETFDH were set to
Mendeliome v0.12787 SET Samantha Ayres reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: None
Mendeliome v0.12787 SERPING1 Samantha Ayres reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35386643, 31517426, 29753808; Phenotypes: Angioedema, hereditary, 1 and 2, MIM#106100, Complement component 4, partial deficiency of, MIM#120790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12787 SERPIND1 Samantha Ayres reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2863444, 8902986, 2647747, 15337701, 31064749, 11204559, 8562924, 29296762; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12787 TRMT10C Zornitza Stark Marked gene: TRMT10C as ready
Mendeliome v0.12787 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Green List (High Evidence).
Mendeliome v0.12787 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mendeliome v0.12786 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to
Mendeliome v0.12785 TRMT10C Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12784 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12784 PDHA2 Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence).
Mendeliome v0.12784 PDHA2 Zornitza Stark gene: PDHA2 was added
gene: PDHA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHA2 were set to 29581481; 35172124
Phenotypes for gene: PDHA2 were set to Spermatogenic failure-70, MIM#619828
Review for gene: PDHA2 was set to RED
Added comment: Three individuals reported from different families with same homozygous missense variant. Same ethnic background, likely founder effect.
Sources: Literature
Mendeliome v0.12783 TRDN Zornitza Stark Marked gene: TRDN as ready
Mendeliome v0.12783 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Mendeliome v0.12783 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
Mendeliome v0.12782 TRDN Zornitza Stark Publications for gene: TRDN were set to
Mendeliome v0.12781 TRDN Zornitza Stark Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12780 TRDN Zornitza Stark reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12780 TRHR Zornitza Stark Marked gene: TRHR as ready
Mendeliome v0.12780 TRHR Zornitza Stark Gene: trhr has been classified as Green List (High Evidence).
Mendeliome v0.12780 TRHR Zornitza Stark Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573
Mendeliome v0.12779 TRHR Zornitza Stark Publications for gene: TRHR were set to
Mendeliome v0.12778 TRHR Zornitza Stark Mode of inheritance for gene: TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12777 TRHR Zornitza Stark reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12777 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Mendeliome v0.12777 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Mendeliome v0.12777 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism, MIM# 253250
Mendeliome v0.12776 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Mendeliome v0.12775 TRIM37 Zornitza Stark Mode of inheritance for gene: TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12774 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism, MIM# 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12774 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Mendeliome v0.12774 TRIM32 Zornitza Stark Gene: trim32 has been classified as Green List (High Evidence).
Mendeliome v0.12774 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Mendeliome v0.12773 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Mendeliome v0.12772 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12771 TRIM32 Zornitza Stark changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006. LIMITED.
Mendeliome v0.12771 TRIM32 Zornitza Stark edited their review of gene: TRIM32: Added comment: >3 unrelated cases with myopathy, adult onset reported; Changed rating: GREEN; Changed publications: 16606853, 31309175, 11822024; Changed phenotypes: Bardet-Biedl syndrome 11, MIM# 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Mendeliome v0.12771 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Mendeliome v0.12771 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12771 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB, MIM# 604559; Erythrokeratodermia variabilis et progressiva 6, MIM# 618531
Mendeliome v0.12770 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
Mendeliome v0.12769 TRPM4 Zornitza Stark Mode of inheritance for gene: TRPM4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12768 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
Mendeliome v0.12768 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12767 TRPM4 Zornitza Stark reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19726882, 20562447, 21887725, 20562447, 35205305, 34897640, 30528822; Phenotypes: Progressive familial heart block, type IB, MIM# 604559, Erythrokeratodermia variabilis et progressiva 6 618531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12767 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Mendeliome v0.12767 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Mendeliome v0.12767 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from to Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Mendeliome v0.12766 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12765 TTPA Zornitza Stark Marked gene: TTPA as ready
Mendeliome v0.12765 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Mendeliome v0.12765 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from to Ataxia with isolated vitamin E deficiency, MIM# 277460
Mendeliome v0.12764 TTPA Zornitza Stark Publications for gene: TTPA were set to
Mendeliome v0.12763 TTPA Zornitza Stark Mode of inheritance for gene: TTPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12762 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Mendeliome v0.12762 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Mendeliome v0.12762 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Mendeliome v0.12761 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Mendeliome v0.12760 TTC19 Zornitza Stark Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12759 TTC19 Zornitza Stark Deleted their comment
Mendeliome v0.12759 TTC19 Zornitza Stark edited their review of gene: TTC19: Added comment: Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.

At least 4 unrelated families reported.; Changed publications: 21278747, 23532514, 24368687, 24397319
Mendeliome v0.12759 TSFM Zornitza Stark Marked gene: TSFM as ready
Mendeliome v0.12759 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Mendeliome v0.12759 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505
Mendeliome v0.12758 TSFM Zornitza Stark Publications for gene: TSFM were set to
Mendeliome v0.12757 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12756 PAX9 Krithika Murali reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615120, 16479262; Phenotypes: Tooth agenesis, selective, 3 - MIM#604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12756 TSFM Zornitza Stark changed review comment from: Ataxia is a reported feature of this mitochondrial disorder.; to: At least 5 families reported, however 3 had the same homozygous variant, ?founder.
Mendeliome v0.12756 TSFM Zornitza Stark edited their review of gene: TSFM: Changed publications: 25037205, 22499341
Mendeliome v0.12756 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mendeliome v0.12756 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Mendeliome v0.12756 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Mendeliome v0.12755 TPK1 Zornitza Stark Publications for gene: TPK1 were set to
Mendeliome v0.12754 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12753 TPK1 Zornitza Stark reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152682, 33626592, 33231275, 33086386; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12753 TP63 Zornitza Stark Marked gene: TP63 as ready
Mendeliome v0.12753 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Mendeliome v0.12753 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Mendeliome v0.12752 TP63 Zornitza Stark Publications for gene: TP63 were set to
Mendeliome v0.12751 TP63 Zornitza Stark Mode of inheritance for gene: TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12750 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 20556892; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12750 TOR1A Zornitza Stark Marked gene: TOR1A as ready
Mendeliome v0.12750 TOR1A Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence).
Mendeliome v0.12750 TOR1A Zornitza Stark Phenotypes for gene: TOR1A were changed from to Arthrogryposis multiplex congenita, MIM#618947; Dystonia-1, torsion, MIM#128100
Mendeliome v0.12749 TOR1A Zornitza Stark Publications for gene: TOR1A were set to
Mendeliome v0.12748 TOR1A Zornitza Stark Mode of inheritance for gene: TOR1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12747 TOR1A Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244176, 9288096, 19955557, 18477710, 32243914, 31583275, 31347572; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947, Dystonia-1, torsion, MIM#128100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12747 TNXB Zornitza Stark Marked gene: TNXB as ready
Mendeliome v0.12747 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Mendeliome v0.12747 TNXB Zornitza Stark Phenotypes for gene: TNXB were changed from to Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408
Mendeliome v0.12746 TNXB Zornitza Stark Publications for gene: TNXB were set to
Mendeliome v0.12745 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12744 TNXB Zornitza Stark reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 28306225, 23620400; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12744 TNPO3 Zornitza Stark Marked gene: TNPO3 as ready
Mendeliome v0.12744 TNPO3 Zornitza Stark Gene: tnpo3 has been classified as Green List (High Evidence).
Mendeliome v0.12744 TNPO3 Zornitza Stark Phenotypes for gene: TNPO3 were changed from to Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423
Mendeliome v0.12743 TNPO3 Zornitza Stark Publications for gene: TNPO3 were set to
Mendeliome v0.12742 TNPO3 Zornitza Stark Mode of inheritance for gene: TNPO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12741 TNPO3 Zornitza Stark reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23667635, 23543484, 31071488, 31192305; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12741 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Mendeliome v0.12741 RSPO2 Zornitza Stark Phenotypes for gene: RSPO2 were changed from to Tetraamelia syndrome 2, MIM# 618021
Mendeliome v0.12740 RSPO2 Zornitza Stark Publications for gene: RSPO2 were set to
Mendeliome v0.12739 RSPO2 Zornitza Stark Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12738 PIGA Zornitza Stark changed review comment from: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; to: PMID 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.
Mendeliome v0.12738 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Mendeliome v0.12737 PIGA Zornitza Stark edited their review of gene: PIGA: Added comment: PIGA 34875027: variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.; Changed publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024, 34875027; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466, Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072
Mendeliome v0.12737 CACNA2D1 Zornitza Stark reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12737 SLC35B2 Zornitza Stark Phenotypes for gene: SLC35B2 were changed from chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability to Leukodystrophy, MONDO:0019046, SLC35B2-related
Mendeliome v0.12736 ATP11A Zornitza Stark Phenotypes for gene: ATP11A were changed from Neurological disorder to Neurological disorder; Deafness, autosomal dominant 84 MIM#619810
Mendeliome v0.12735 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372
Mendeliome v0.12734 ATP11A Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12733 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Mendeliome v0.12733 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Mendeliome v0.12733 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12733 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Mendeliome v0.12732 CACNA2D1 Alison Yeung Classified gene: CACNA2D1 as Green List (high evidence)
Mendeliome v0.12732 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12731 TTC21B Dean Phelan edited their review of gene: TTC21B: Added comment: Correcting typographical error; Changed phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related
Mendeliome v0.12731 CACNA2D1 Michelle Torres gene: CACNA2D1 was added
gene: CACNA2D1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Review for gene: CACNA2D1 was set to GREEN
Added comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed impaired localization and mutagenesis showed complete loss of channel function.
Sources: Literature
Mendeliome v0.12731 TTC21B Dean Phelan edited their review of gene: TTC21B: Added comment: Updated to include additional publications linking glomerular disorder.; Changed rating: GREEN; Changed publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Changed phenotypes: Glomerular disorder (MONOD:0019722), TTC21B-related
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Marked gene: TRAPPC10 as ready
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Classified gene: TRAPPC10 as Green List (high evidence)
Mendeliome v0.12731 TRAPPC10 Zornitza Stark Gene: trappc10 has been classified as Green List (High Evidence).
Mendeliome v0.12730 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
Mendeliome v0.12729 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome; Glomerular disorder MONDO:0019722, TTC21B-related
Mendeliome v0.12728 RSPO2 Belinda Chong reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12728 TRAPPC10 Naomi Baker gene: TRAPPC10 was added
gene: TRAPPC10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849
Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related
Review for gene: TRAPPC10 was set to GREEN
Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.

PMID: 30167849 – initial report of family 2 above.
Sources: Literature
Mendeliome v0.12728 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to} MIM#182940 to {Neural tube defects, susceptibility to} MIM#182940; craniosynostosis, FUZ-related MONDO#0015469
Mendeliome v0.12727 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12726 ATP11A Paul De Fazio reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84 MIM#619810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.12726 FUZ Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: craniosynostosis, FUZ-related MONDO#0015469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12726 MDFIC Belinda Chong edited their review of gene: MDFIC: Changed phenotypes: Hydrops fetalis MONDO:0015193
Mendeliome v0.12726 TNNI1 Zornitza Stark Marked gene: TNNI1 as ready
Mendeliome v0.12726 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12726 TNNI1 Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
Mendeliome v0.12726 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12725 TNNI1 Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
Mendeliome v0.12724 SLC35B2 Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12724 SLC35B2 Alison Yeung Classified gene: SLC35B2 as Amber List (moderate evidence)
Mendeliome v0.12724 SLC35B2 Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12723 FUZ Anna Ritchie Deleted their review
Mendeliome v0.12723 FUZ Anna Ritchie commented on gene: FUZ
Mendeliome v0.12723 ATP2B1 Zornitza Stark Marked gene: ATP2B1 as ready
Mendeliome v0.12723 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12723 ATP2B1 Zornitza Stark Classified gene: ATP2B1 as Green List (high evidence)
Mendeliome v0.12723 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12722 FUZ Anna Ritchie Deleted their review
Mendeliome v0.12722 SLC35B2 Melanie Marty changed review comment from: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature; to: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Mendeliome v0.12722 ATP2B1 Zornitza Stark Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental delay; autism; seizures; distal limb abnormalities to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related
Mendeliome v0.12721 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)
Mendeliome v0.12721 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)
Mendeliome v0.12720 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Mendeliome v0.12720 TTC21B Dean Phelan reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35289079; Phenotypes: early onset hypertension, proteinuria, progressive kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12720 FUZ Anna Ritchie changed review comment from: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.; to: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.
Mendeliome v0.12720 ADAM22 Alison Yeung Publications for gene: ADAM22 were set to 27066583; 30237576
Mendeliome v0.12719 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Mendeliome v0.12719 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Mendeliome v0.12718 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Central conducting lymphatic anomaly with lymphedema to Hydrops fetalis MONDO:0015193
Mendeliome v0.12717 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Mendeliome v0.12717 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Mendeliome v0.12716 FUZ Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12716 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Mendeliome v0.12715 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12714 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Mendeliome v0.12714 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879, Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12714 SLC35B2 Melanie Marty gene: SLC35B2 was added
gene: SLC35B2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to PMID: 35325049
Phenotypes for gene: SLC35B2 were set to chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability
Review for gene: SLC35B2 was set to AMBER
Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Mendeliome v0.12714 AHSG Elena Savva gene: AHSG was added
gene: AHSG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AHSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHSG were set to PMID: 28054173; 9395485; 31288248; 17389622
Phenotypes for gene: AHSG were set to ?Alopecia-intellectual disability syndrome 1 MIM#203650; infantile cortical hyperostosis
Review for gene: AHSG was set to RED
Added comment: PMID: 28054173 - 7 relatives within a large consanguinous fam w/ alopecia and ID, and a hom missense (p.Arg317His). Modelling predicts this variant to be a phosphorylation site, functional studies show a difference in protein size. Unclear biological significance.
Alt change with stronger GS (p.(Arg317Cys)) is a common poly with 19 homozygotes in gnomAD.

No hom PTCs in gnomAD

PMID: 9395485 - K/O mouse model shows no gross anatomical abnormalities, were fertile and "healthy". No mentioned of ID, alopecia
PMID: 17389622 - K/O mouse model on the calcification resistant genetic background C57BL/6, shows uraemia and phosphate challenge. No mentioned of ID, alopecia

PMID: 31288248 - 1 hom infant (p.K2*, within 5' NMD escape region) with infantile cortical hyperostosis, loss of enzyme in patient serum shown by ELISA. No mentioned of ID, alopecia
Sources: Literature
Mendeliome v0.12713 ADAM22 Lucy Spencer reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12713 VPS16 Ain Roesley Phenotypes for gene: VPS16 were changed from Dystonia 30, MIM#619291 to Dystonia 30, MIM#619291; mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Mendeliome v0.12712 VPS16 Ain Roesley Publications for gene: VPS16 were set to 32808683
Mendeliome v0.12712 VPS16 Ain Roesley Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12711 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Central conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Mendeliome v0.12711 ATP2B1 Daniel Flanagan gene: ATP2B1 was added
gene: ATP2B1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B1 were set to PMID: 35358416
Phenotypes for gene: ATP2B1 were set to Neurodevelopmental delay; autism; seizures; distal limb abnormalities
Review for gene: ATP2B1 was set to GREEN
Added comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense.
Sources: Expert list
Mendeliome v0.12711 VPS16 Ain Roesley changed review comment from: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below; to: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below

PMID:34901436 suggests dystonia is transcript specific
Mendeliome v0.12711 VPS16 Ain Roesley edited their review of gene: VPS16: Changed publications: 33938619, 34013567, 34901436
Mendeliome v0.12711 VPS16 Ain Roesley changed review comment from: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x het p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below; to: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below
Mendeliome v0.12711 TNFSF4 Zornitza Stark Marked gene: TNFSF4 as ready
Mendeliome v0.12711 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12711 TNFSF4 Zornitza Stark Phenotypes for gene: TNFSF4 were changed from to {Myocardial infarction, susceptibility to} 608446
Mendeliome v0.12710 TNFSF4 Zornitza Stark Mode of inheritance for gene: TNFSF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12709 VPS16 Ain Roesley reviewed gene: VPS16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33938619, 34013567; Phenotypes: mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12709 TNFSF4 Zornitza Stark Classified gene: TNFSF4 as Red List (low evidence)
Mendeliome v0.12709 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12708 TNFSF4 Zornitza Stark reviewed gene: TNFSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Myocardial infarction, susceptibility to} 608446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12708 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Mendeliome v0.12708 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Mendeliome v0.12708 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710
Mendeliome v0.12707 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Mendeliome v0.12706 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFSF11 Zornitza Stark edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520
Mendeliome v0.12705 TNFSF11 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple families and mouse model.
Mendeliome v0.12705 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM# 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000
Mendeliome v0.12704 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Mendeliome v0.12703 TNFRSF11B Zornitza Stark Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TNFRSF11B Zornitza Stark reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset, MIM# 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Mendeliome v0.12702 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Mendeliome v0.12702 TMEM240 Zornitza Stark Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM# 607454
Mendeliome v0.12701 TMEM240 Zornitza Stark Publications for gene: TMEM240 were set to
Mendeliome v0.12700 TMEM240 Zornitza Stark Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12699 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Mendeliome v0.12699 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Mendeliome v0.12699 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to} 171300
Mendeliome v0.12698 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12697 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to} 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12697 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Mendeliome v0.12697 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Mendeliome v0.12697 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Mendeliome v0.12696 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Mendeliome v0.12695 TMEM126B Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12694 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12694 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Mendeliome v0.12694 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Mendeliome v0.12694 TMEM106B Zornitza Stark Phenotypes for gene: TMEM106B were changed from to Leukodystrophy, hypomyelinating, 16, MIM# 617964
Mendeliome v0.12693 TMEM106B Zornitza Stark Publications for gene: TMEM106B were set to
Mendeliome v0.12692 TMEM106B Zornitza Stark Mode of inheritance for gene: TMEM106B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12691 TMEM106B Zornitza Stark changed review comment from: Cerebellar signs including ataxia prominent.; to: Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum.

At least 5 unrelated individuals reported.
Mendeliome v0.12691 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Mendeliome v0.12691 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2 (MIM#618388); Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Mendeliome v0.12690 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Mendeliome v0.12689 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12688 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Mendeliome v0.12688 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anaemia, complementation group O (MIM#613390)
Mendeliome v0.12687 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Mendeliome v0.12686 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12685 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12684 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
Mendeliome v0.12684 LIG3 Zornitza Stark edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12684 GGN Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12684 GGN Zornitza Stark Classified gene: GGN as Amber List (moderate evidence)
Mendeliome v0.12684 GGN Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12683 GGN Zornitza Stark gene: GGN was added
gene: GGN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGN were set to 31985809; 33108537
Phenotypes for gene: GGN were set to Spermatogenic failure 69, MIM# 619826
Review for gene: GGN was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Literature
Mendeliome v0.12682 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mendeliome v0.12681 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Mendeliome v0.12680 SLC25A26 Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12679 SLC25A26 Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12679 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mendeliome v0.12679 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mendeliome v0.12678 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mendeliome v0.12677 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 RAPSN Crystle Lee reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226, 19620612, 22482962, 28495245, 18179903, 28495245; Phenotypes: Fetal akinesia deformation sequence 2 (MIM#618388), Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 RAD51C Crystle Lee reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963, 22167183; Phenotypes: Fanconi anemia, complementation group O (MIM#613390); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Mendeliome v0.12676 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Mendeliome v0.12675 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Mendeliome v0.12674 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12673 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12673 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Mendeliome v0.12673 SLC25A42 Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Mendeliome v0.12672 SLC25A42 Zornitza Stark Publications for gene: SLC25A42 were set to
Mendeliome v0.12671 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12670 SLC25A42 Zornitza Stark Tag founder tag was added to gene: SLC25A42.
Mendeliome v0.12670 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12670 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Mendeliome v0.12670 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
Mendeliome v0.12669 SLC2A10 Zornitza Stark Publications for gene: SLC2A10 were set to
Mendeliome v0.12668 SLC2A10 Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12667 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12667 SLC2A2 Zornitza Stark changed review comment from: Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.; to: Fanconi-Bickel syndrome is characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.
Mendeliome v0.12667 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Mendeliome v0.12667 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
Mendeliome v0.12666 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Mendeliome v0.12665 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12664 SLC2A2 Zornitza Stark reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12664 SLC2A3 Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12664 SLC2A3 Zornitza Stark Classified gene: SLC2A3 as Red List (low evidence)
Mendeliome v0.12664 SLC2A3 Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12663 SLC2A3 Zornitza Stark reviewed gene: SLC2A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12663 SLC2A4 Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
Mendeliome v0.12663 SLC2A4 Zornitza Stark Classified gene: SLC2A4 as Red List (low evidence)
Mendeliome v0.12663 SLC2A4 Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
Mendeliome v0.12662 SLC2A4 Zornitza Stark reviewed gene: SLC2A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12662 SORT1 Zornitza Stark Marked gene: SORT1 as ready
Mendeliome v0.12662 SORT1 Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
Mendeliome v0.12662 SORT1 Zornitza Stark Phenotypes for gene: SORT1 were changed from to Low density lipoprotein cholesterol level QTL6] 613589
Mendeliome v0.12661 SORT1 Zornitza Stark Mode of inheritance for gene: SORT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12660 SORT1 Zornitza Stark Classified gene: SORT1 as Red List (low evidence)
Mendeliome v0.12660 SORT1 Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
Mendeliome v0.12659 SORT1 Zornitza Stark reviewed gene: SORT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Low density lipoprotein cholesterol level QTL6] 613589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12659 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Mendeliome v0.12659 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mendeliome v0.12658 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Mendeliome v0.12657 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: Kallman syndrome, PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX17 Zornitza Stark edited their review of gene: SOX17: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX17 Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence).
Mendeliome v0.12656 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924
Mendeliome v0.12655 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Mendeliome v0.12654 SOX17 Zornitza Stark Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12653 SOX17 Zornitza Stark reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341, 20960469; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: None
Mendeliome v0.12653 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Mendeliome v0.12653 SOX18 Zornitza Stark Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Mendeliome v0.12652 SOX18 Zornitza Stark Publications for gene: SOX18 were set to
Mendeliome v0.12651 SOX18 Zornitza Stark Mode of inheritance for gene: SOX18 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12650 SOX18 Zornitza Stark reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12740761, 24697860, 2484451, 26148450, 33851505; Phenotypes: Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12650 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Mendeliome v0.12650 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM# 616803
Mendeliome v0.12649 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Mendeliome v0.12648 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12647 SOX5 Zornitza Stark Tag SV/CNV tag was added to gene: SOX5.
Mendeliome v0.12647 SOX5 Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22290657, 23220431; Phenotypes: Lamb-Shaffer syndrome, MIM# 616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12647 SOX9 Zornitza Stark Gene: sox9 has been classified as Green List (High Evidence).
Mendeliome v0.12647 SOX9 Zornitza Stark Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251
Mendeliome v0.12646 SOX9 Zornitza Stark Publications for gene: SOX9 were set to
Mendeliome v0.12645 SOX9 Zornitza Stark edited their review of gene: SOX9: Changed publications: 20301724
Mendeliome v0.12645 SOX9 Zornitza Stark Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12644 SOX9 Zornitza Stark reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12644 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12644 SP7 Zornitza Stark Gene: sp7 has been classified as Green List (High Evidence).
Mendeliome v0.12644 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Mendeliome v0.12643 SP7 Zornitza Stark Publications for gene: SP7 were set to
Mendeliome v0.12642 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12641 SP7 Zornitza Stark reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12641 SPAG7 Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
Mendeliome v0.12641 SPAG7 Zornitza Stark Phenotypes for gene: SPAG7 were changed from to Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540
Mendeliome v0.12640 SPAG7 Zornitza Stark Publications for gene: SPAG7 were set to
Mendeliome v0.12639 SPAG7 Zornitza Stark Mode of inheritance for gene: SPAG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12638 SPAG7 Zornitza Stark Classified gene: SPAG7 as Red List (low evidence)
Mendeliome v0.12638 SPAG7 Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
Mendeliome v0.12637 SPAG7 Zornitza Stark reviewed gene: SPAG7: Rating: RED; Mode of pathogenicity: None; Publications: 24452265; Phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12637 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Mendeliome v0.12637 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mendeliome v0.12637 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Mendeliome v0.12636 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Mendeliome v0.12635 SPATA5 Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12634 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12634 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Mendeliome v0.12634 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Hypertelorism, Teebi type, MIM# 145420; Opitz GBBB syndrome, type II, MIM#145410
Mendeliome v0.12633 SPECC1L Zornitza Stark Publications for gene: SPECC1L were set to
Mendeliome v0.12632 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12631 SPECC1L Zornitza Stark Deleted their comment
Mendeliome v0.12631 SPECC1L Zornitza Stark edited their review of gene: SPECC1L: Added comment: Well established gene-disease associations with Teebi and Opitz GBBB.

Single individual reported with oblique facial cleft, some supportive functional data.; Changed publications: 25412741, 26111080, 21703590; Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410
Mendeliome v0.12631 SPECC1L Zornitza Stark edited their review of gene: SPECC1L: Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410, Craniosynostosis
Mendeliome v0.12631 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12631 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Mendeliome v0.12631 SSR4 Zornitza Stark Phenotypes for gene: SSR4 were changed from to Congenital disorder of glycosylation, type Iy, MIM# 300934
Mendeliome v0.12630 SSR4 Zornitza Stark Publications for gene: SSR4 were set to
Mendeliome v0.12629 SSR4 Zornitza Stark Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12628 SSR4 Zornitza Stark reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24218363, 26264460, 33300232; Phenotypes: Congenital disorder of glycosylation, type Iy, MIM# 300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12628 SRY Zornitza Stark Gene: sry has been classified as Green List (High Evidence).
Mendeliome v0.12628 SRY Zornitza Stark Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044
Mendeliome v0.12627 SRY Zornitza Stark Publications for gene: SRY were set to
Mendeliome v0.12626 SRY Zornitza Stark Mode of inheritance for gene: SRY was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12625 SRY Zornitza Stark reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: 9143916, 15863672; Phenotypes: 46XX sex reversal 1, MIM# 400045, 46XY sex reversal 1 , MIM#400044; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12625 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Mendeliome v0.12625 SRP54 Zornitza Stark Phenotypes for gene: SRP54 were changed from to Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752
Mendeliome v0.12624 SRP54 Zornitza Stark Publications for gene: SRP54 were set to
Mendeliome v0.12623 SRP54 Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12622 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12622 SRD5A2 Zornitza Stark Gene: srd5a2 has been classified as Green List (High Evidence).
Mendeliome v0.12622 SRD5A2 Zornitza Stark Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600
Mendeliome v0.12621 SRD5A2 Zornitza Stark Publications for gene: SRD5A2 were set to
Mendeliome v0.12620 SRD5A2 Zornitza Stark Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12619 SRD5A2 Zornitza Stark reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12619 SPRY1 Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
Mendeliome v0.12619 SPRY1 Zornitza Stark Classified gene: SPRY1 as Red List (low evidence)
Mendeliome v0.12619 SPRY1 Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
Mendeliome v0.12618 SPRY1 Zornitza Stark reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12618 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Mendeliome v0.12618 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500
Mendeliome v0.12617 SPINK5 Zornitza Stark Publications for gene: SPINK5 were set to
Mendeliome v0.12616 SPINK5 Zornitza Stark Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12615 SPINK5 Zornitza Stark reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12615 SPINK1 Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence).
Mendeliome v0.12615 SPINK1 Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800
Mendeliome v0.12614 SPINK1 Zornitza Stark Publications for gene: SPINK1 were set to
Mendeliome v0.12613 SPINK1 Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12612 SPINK1 Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12612 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250
Mendeliome v0.12611 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12610 SPG7 Zornitza Stark changed review comment from: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.

Well established for bi-allelic variants.

Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.; to: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.

Well established for bi-allelic variants.

Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.

Association with OA: 7 families reported for AD OA, including 5 missense and 2 frameshift variants, PMID 32548275
Mendeliome v0.12610 SPG7 Zornitza Stark edited their review of gene: SPG7: Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant optic atrophy, MONDO:0020250; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12610 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Mendeliome v0.12610 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Mendeliome v0.12609 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Mendeliome v0.12608 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12607 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12607 RSPO4 Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence).
Mendeliome v0.12607 RSPO4 Zornitza Stark Phenotypes for gene: RSPO4 were changed from to Anonychia congenita MIM# 206800