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Cataract v0.366 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: RED; 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: 16088910, 9823897, 10911993, 15333585, 9809069; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.366 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated to Rothmund-Thomson syndrome, type 4, MIM# 620819
Cataract v0.365 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 4, MIM# 620819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.365 FOSL2 Zornitza Stark Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Cataract v0.364 FOSL2 Zornitza Stark reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.364 RGS6 Zornitza Stark Phenotypes for gene: RGS6 were changed from Neurodevelopmental disorder, MONDO:0700092, RGS6-related to Neurodevelopmental disorder, MONDO:0700092, RGS6-related
Cataract v0.363 RGS6 Zornitza Stark Phenotypes for gene: RGS6 were changed from Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, RGS6-related
Cataract v0.362 RGS6 Seb Lunke Marked gene: RGS6 as ready
Cataract v0.362 RGS6 Seb Lunke Gene: rgs6 has been classified as Red List (Low Evidence).
Cataract v0.362 RGS6 Seb Lunke gene: RGS6 was added
gene: RGS6 was added to Cataract. Sources: Literature
Mode of inheritance for gene: RGS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS6 were set to 38332109; 25525169
Phenotypes for gene: RGS6 were set to Cataract,MONDO:0005129; intellectual disability, MONDO:0001071; microcephaly, MONDO:0001149
Review for gene: RGS6 was set to RED
Added comment: Original paper from 2015 describes single consanguineous with two siblings affected by cataract, developmental delay, and microcephaly >3SD. A homozygous canonical splice variant predicted to lead to NMD in RGS6 was identified by WGS and linkage (rather than full WGS analysis). The 2024 paper speculates that the phenotype is driven by a change in RGS6 isoform balance rather than LoF using a knock-out mouse model. It is noted that the mice did not have microcephaly, and ID was assessed using social interaction. No mention of cataract in the mice.
Sources: Literature
Cataract v0.361 DNA2 Elena Savva Publications for gene: DNA2 were set to 37133451
Cataract v0.360 EPHA2 Zornitza Stark Marked gene: EPHA2 as ready
Cataract v0.360 EPHA2 Zornitza Stark Gene: epha2 has been classified as Green List (High Evidence).
Cataract v0.360 EPHA2 Zornitza Stark Phenotypes for gene: EPHA2 were changed from to Cataract 6, multiple types, MIM# 116600
Cataract v0.359 EPHA2 Zornitza Stark Publications for gene: EPHA2 were set to
Cataract v0.358 EPHA2 Zornitza Stark Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.357 EPHA2 Zornitza Stark reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840, 35918037, 34638995; Phenotypes: Cataract 6, multiple types, MIM# 116600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.357 AKR1E2 Zornitza Stark Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related
Cataract v0.356 AKR1E2 Zornitza Stark reviewed gene: AKR1E2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract, MONDO:0005129, AKR1E2-related; Mode of inheritance: None
Cataract v0.356 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Cataract v0.356 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Cataract v0.355 COL4A2 Ee Ming Wong gene: COL4A2 was added
gene: COL4A2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to PMID: 26708157; 24203695
Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related
Review for gene: COL4A2 was set to AMBER
gene: COL4A2 was marked as current diagnostic
Added comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation.
- PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract.
Sources: Literature
Cataract v0.355 TAPT1 Ain Roesley Marked gene: TAPT1 as ready
Cataract v0.355 TAPT1 Ain Roesley Gene: tapt1 has been classified as Red List (Low Evidence).
Cataract v0.355 TAPT1 Ain Roesley Classified gene: TAPT1 as Red List (low evidence)
Cataract v0.355 TAPT1 Ain Roesley Gene: tapt1 has been classified as Red List (Low Evidence).
Cataract v0.354 TAPT1 Paul De Fazio gene: TAPT1 was added
gene: TAPT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 36697720; 36652330
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Review for gene: TAPT1 was set to RED
gene: TAPT1 was marked as current diagnostic
Added comment: PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement.
Sources: Literature
Cataract v0.354 DNA2 Seb Lunke Classified gene: DNA2 as Amber List (moderate evidence)
Cataract v0.354 DNA2 Seb Lunke Gene: dna2 has been classified as Amber List (Moderate Evidence).
Cataract v0.353 DNA2 Seb Lunke Marked gene: DNA2 as ready
Cataract v0.353 DNA2 Seb Lunke Gene: dna2 has been classified as Red List (Low Evidence).
Cataract v0.353 DNA2 Seb Lunke gene: DNA2 was added
gene: DNA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 37133451
Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated
Review for gene: DNA2 was set to AMBER
Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation.
Sources: Literature
Cataract v0.353 DNA2 Seb Lunke gene: DNA2 was added
gene: DNA2 was added to Cataract. Sources: Literature
deep intronic, founder tags were added to gene: DNA2.
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 37133451
Phenotypes for gene: DNA2 were set to Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated
Review for gene: DNA2 was set to AMBER
Added comment: A phenotypic expansion has been proposed based on a cohort of six Brazilian probands that in addition to classic RTS also presented with poikiloderma and congenital cataracts. All shared the same deep intronic splice variant, c.588–2214 A>G, in trans with other LoF variants. The deep intronic variant has been shown to result in the inclusion of a cryptic exon in the mature RNA, resulting in a frame shift and premature termination codon. The authors speculate that the shared intronic variant, which they attribute to a founder effect, has residual normal splicing responsible for the phenotypic variation.
Sources: Literature
Cataract v0.352 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from RNH1-related disease to Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Cataract v0.351 RNH1 Zornitza Stark reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.351 RNH1 Seb Lunke Marked gene: RNH1 as ready
Cataract v0.351 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Cataract v0.351 RNH1 Seb Lunke Classified gene: RNH1 as Red List (low evidence)
Cataract v0.351 RNH1 Seb Lunke Added comment: Comment on list classification: One consanguineous family only
Cataract v0.351 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Cataract v0.350 RNH1 Krithika Murali changed review comment from: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature; to: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature
Cataract v0.350 RNH1 Krithika Murali gene: RNH1 was added
gene: RNH1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to PMID: 36935417
Phenotypes for gene: RNH1 were set to RNH1-related disease
Review for gene: RNH1 was set to AMBER
Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, regression in the context of infection and seizures. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature
Cataract v0.350 TRPM3 Zornitza Stark Marked gene: TRPM3 as ready
Cataract v0.350 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.350 TRPM3 Zornitza Stark Classified gene: TRPM3 as Amber List (moderate evidence)
Cataract v0.350 TRPM3 Zornitza Stark Gene: trpm3 has been classified as Amber List (Moderate Evidence).
Cataract v0.349 TRPM3 Zornitza Stark gene: TRPM3 was added
gene: TRPM3 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 25090642; 33484482
Phenotypes for gene: TRPM3 were set to Cataract 50 with or without glaucoma, MIM#620253
Review for gene: TRPM3 was set to AMBER
Added comment: Single multi-generational family reported with a missense variant in this gene and cataract. Mouse model of same variant.
Sources: Expert list
Cataract v0.348 LEMD2 Seb Lunke Marked gene: LEMD2 as ready
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Cataract v0.348 LEMD2 Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence)
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Cataract v0.347 LEMD2 Seb Lunke gene: LEMD2 was added
gene: LEMD2 was added to Cataract. Sources: Literature
founder tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660
Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500
Review for gene: LEMD2 was set to AMBER
Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.

Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)

Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).

It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time.
Sources: Literature
Cataract v0.346 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Cataract v0.346 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Cataract v0.345 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Cataract v0.345 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Cataract v0.345 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Cataract v0.345 Zornitza Stark HPO terms changed from to Cataract, HP:0000518
List of related panels changed from to Cataract; HP:0000518
Cataract v0.344 GLS Chern Lim changed review comment from: PMID: 30239721:
A de novo Ser482Cys gain-of-function variant in GLS, associated with profound developmental delay and
infantile cataract.
Functional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity.; to: PMID: 30239721:
A de novo Ser482Cys gain-of-function variant in GLS, associated with profound developmental delay and infantile cataract.
Functional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity.
Cataract v0.344 GLS Chern Lim reviewed gene: GLS: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: Infantile cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cataract v0.344 CRYAB Teresa Zhao reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 26402864; Phenotypes: Cataract 16, multiple types (MIM#613763); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.344 GCNT2 Zornitza Stark Marked gene: GCNT2 as ready
Cataract v0.344 GCNT2 Zornitza Stark Gene: gcnt2 has been classified as Green List (High Evidence).
Cataract v0.344 GCNT2 Zornitza Stark Phenotypes for gene: GCNT2 were changed from to Cataract 13 with adult i phenotype, OMIM # 116700
Cataract v0.343 GCNT2 Zornitza Stark Publications for gene: GCNT2 were set to
Cataract v0.342 GCNT2 Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.341 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Cataract v0.340 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Cataract v0.340 GEMIN4 Chirag Patel Classified gene: GEMIN4 as Green List (high evidence)
Cataract v0.340 GEMIN4 Chirag Patel Gene: gemin4 has been classified as Green List (High Evidence).
Cataract v0.339 GEMIN4 Chirag Patel reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.339 GCNT2 Chirag Patel reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.339 MIR184 Zornitza Stark Marked gene: MIR184 as ready
Cataract v0.339 MIR184 Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence).
Cataract v0.339 MIR184 Zornitza Stark Phenotypes for gene: MIR184 were changed from to EDICT syndrome, MIM# 614303
Cataract v0.338 MIR184 Zornitza Stark Publications for gene: MIR184 were set to
Cataract v0.337 MIR184 Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.336 MIR184 Zornitza Stark reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: None; Publications: 21996275, 22131394, 25373792, 24138095; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.336 CRYGS Zornitza Stark Marked gene: CRYGS as ready
Cataract v0.336 CRYGS Zornitza Stark Gene: crygs has been classified as Green List (High Evidence).
Cataract v0.336 CRYGS Zornitza Stark Phenotypes for gene: CRYGS were changed from to Cataract 20, multiple types MIM#116100
Cataract v0.335 CRYGS Zornitza Stark Publications for gene: CRYGS were set to
Cataract v0.334 CRYGS Zornitza Stark Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.333 CRYGS Zornitza Stark 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
Cataract v0.333 LIM2 Zornitza Stark Marked gene: LIM2 as ready
Cataract v0.333 LIM2 Zornitza Stark Gene: lim2 has been classified as Green List (High Evidence).
Cataract v0.333 LIM2 Zornitza Stark Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277
Cataract v0.332 LIM2 Zornitza Stark Publications for gene: LIM2 were set to
Cataract v0.331 LIM2 Zornitza Stark Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.330 LIM2 Zornitza Stark reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.330 BFSP1 Zornitza Stark Marked gene: BFSP1 as ready
Cataract v0.330 BFSP1 Zornitza Stark Gene: bfsp1 has been classified as Green List (High Evidence).
Cataract v0.330 BFSP1 Zornitza Stark Phenotypes for gene: BFSP1 were changed from to Cataract 33, multiple types, MIM# 611391
Cataract v0.329 BFSP1 Zornitza Stark Publications for gene: BFSP1 were set to
Cataract v0.328 BFSP1 Zornitza Stark Mode of inheritance for gene: BFSP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.327 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
Cataract v0.327 CHMP4B Zornitza Stark Marked gene: CHMP4B as ready
Cataract v0.327 CHMP4B Zornitza Stark Gene: chmp4b has been classified as Green List (High Evidence).
Cataract v0.327 CHMP4B Zornitza Stark Phenotypes for gene: CHMP4B were changed from to Cataract 31, multiple types MIM#605387
Cataract v0.326 CHMP4B Zornitza Stark Publications for gene: CHMP4B were set to
Cataract v0.325 CHMP4B Zornitza Stark Mode of inheritance for gene: CHMP4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.324 CHMP4B Zornitza Stark 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
Cataract v0.324 P3H2 Zornitza Stark Marked gene: P3H2 as ready
Cataract v0.324 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Cataract v0.324 P3H2 Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Cataract v0.323 P3H2 Zornitza Stark Publications for gene: P3H2 were set to 21885030; 24172257; 25469533
Cataract v0.323 P3H2 Zornitza Stark Publications for gene: P3H2 were set to
Cataract v0.322 P3H2 Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.321 AGK Elena Savva Publications for gene: AGK were set to 22415731; 25208612
Cataract v0.321 AGK Elena Savva Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.321 AGK Elena Savva Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.320 AGK Elena Savva Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.320 AGK Elena Savva Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.320 AGK Elena Savva Publications for gene: AGK were set to
Cataract v0.320 AGK Elena Savva Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.319 AGK Elena Savva Marked gene: AGK as ready
Cataract v0.319 AGK Elena Savva Gene: agk has been classified as Green List (High Evidence).
Cataract v0.319 AGK Elena Savva reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.319 P3H2 Krithika Murali reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.319 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Cataract v0.319 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Cataract v0.319 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from to Cataract 4, multiple types, MIM# 115700
Cataract v0.318 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Cataract v0.317 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.316 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.316 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Cataract v0.316 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Cataract v0.316 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from to Cataract 2, multiple types, MIM# 604307
Cataract v0.315 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Cataract v0.314 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.313 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.313 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Cataract v0.313 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Cataract v0.313 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from to Cataract 22, MIM# 609741
Cataract v0.312 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Cataract v0.311 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.310 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.310 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Cataract v0.310 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Cataract v0.310 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from to Cataract 3, multiple types, MIM# 601547
Cataract v0.309 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Cataract v0.308 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.307 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.307 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Cataract v0.307 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Cataract v0.307 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from to Cataract 17, multiple types, MIM# 611544
Cataract v0.306 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Cataract v0.305 CRYBB1 Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.304 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.304 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Cataract v0.304 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Cataract v0.304 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425
Cataract v0.303 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Cataract v0.302 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.301 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.301 CRYBA1 Zornitza Stark Marked gene: CRYBA1 as ready
Cataract v0.301 CRYBA1 Zornitza Stark Gene: cryba1 has been classified as Green List (High Evidence).
Cataract v0.301 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from to Cataract 10, multiple types, MIM# 600881
Cataract v0.300 CRYBA1 Zornitza Stark Publications for gene: CRYBA1 were set to
Cataract v0.299 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.298 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.298 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Cataract v0.298 CRYAA Zornitza Stark Gene: cryaa has been classified as Green List (High Evidence).
Cataract v0.298 CRYAA Zornitza Stark Phenotypes for gene: CRYAA were changed from to Cataract 9, multiple types, MIM# 604219
Cataract v0.297 CRYAA Zornitza Stark Publications for gene: CRYAA were set to
Cataract v0.296 CRYAA Zornitza Stark Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.295 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.295 BFSP2 Zornitza Stark Marked gene: BFSP2 as ready
Cataract v0.295 BFSP2 Zornitza Stark Gene: bfsp2 has been classified as Green List (High Evidence).
Cataract v0.295 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from to Cataract 12, multiple types, MIM# 611597
Cataract v0.294 BFSP2 Zornitza Stark Publications for gene: BFSP2 were set to
Cataract v0.293 BFSP2 Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.292 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.292 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Cataract v0.291 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Cataract v0.291 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.291 ADAMTS17 Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence)
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.290 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Review for gene: ADAMTS17 was set to GREEN
Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported.
Sources: Expert Review
Cataract v0.289 CYP51A1 Bryony Thompson Phenotypes for gene: CYP51A1 were changed from to Congenital cataract; infantile liver disease
Cataract v0.288 CYP51A1 Bryony Thompson Publications for gene: CYP51A1 were set to
Cataract v0.287 CYP51A1 Bryony Thompson Marked gene: CYP51A1 as ready
Cataract v0.287 CYP51A1 Bryony Thompson Gene: cyp51a1 has been classified as Green List (High Evidence).
Cataract v0.287 CYP51A1 Bryony Thompson reviewed gene: CYP51A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22935719, 26622071, 27878435, 25148791; Phenotypes: Congenital cataract, infantile liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.287 UBE2U Zornitza Stark Marked gene: UBE2U as ready
Cataract v0.287 UBE2U Zornitza Stark Gene: ube2u has been classified as Red List (Low Evidence).
Cataract v0.287 UBE2U Zornitza Stark Classified gene: UBE2U as Red List (low evidence)
Cataract v0.287 UBE2U Zornitza Stark Gene: ube2u has been classified as Red List (Low Evidence).
Cataract v0.286 UBE2U Ee Ming Wong gene: UBE2U was added
gene: UBE2U was added to Cataract. Sources: Literature
Mode of inheritance for gene: UBE2U was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBE2U were set to PMID: 33776059
Phenotypes for gene: UBE2U were set to Retinoschisis; cataracts; learning disabilities; developmental delay
Penetrance for gene: UBE2U were set to Complete
Review for gene: UBE2U was set to RED
gene: UBE2U was marked as current diagnostic
Added comment: - one missense UBE2U variant identified in one family with five affected individuals (includes proband)
- in silico analyses predicts the UBE2U variant to be damaging
- no functional
- another STUM missense variant identified in the same family predicted to be benign
- additional clinical assessment indicated that the family shared some systemic dysmorphisms and learning disabilities similar to RIDDLE syndrome
Sources: Literature
Cataract v0.286 PGRMC1 Bryony Thompson Marked gene: PGRMC1 as ready
Cataract v0.286 PGRMC1 Bryony Thompson Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
Cataract v0.286 PGRMC1 Bryony Thompson changed review comment from: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5.
Sources: Literature; to: A single large family with X-linked isolated paediatric cataract in males segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated male probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5.
Sources: Literature
Cataract v0.286 PGRMC1 Bryony Thompson Classified gene: PGRMC1 as Amber List (moderate evidence)
Cataract v0.286 PGRMC1 Bryony Thompson Gene: pgrmc1 has been classified as Amber List (Moderate Evidence).
Cataract v0.285 PGRMC1 Bryony Thompson gene: PGRMC1 was added
gene: PGRMC1 was added to Cataract. Sources: Literature
SV/CNV tags were added to gene: PGRMC1.
Mode of inheritance for gene: PGRMC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGRMC1 were set to 33867527; 23783460
Phenotypes for gene: PGRMC1 were set to Isolated paediatric cataract
Review for gene: PGRMC1 was set to AMBER
Added comment: A single large family with X-linked isolated paediatric cataract segregating a large 127 kb deletion truncating PGRMC1. A supporting knockout zebrafish model with cataract. Also, two unrelated probands with non-syndromic ID and cataract with a large deletion encompassing PGRMC1 and SLC25A5.
Sources: Literature
Cataract v0.284 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420
Cataract v0.283 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to 15696165; 20512159; 23420520
Cataract v0.282 RAB3GAP1 Zornitza Stark changed review comment from: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.; to: Warburg micro: Rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe ID, spastic diplegia, and hypogonadism. Multiple families reported.

Martsolf syndrome is characterised by cataracts, mild to severe ID, dysmorphic features. Two families reported.
Cataract v0.282 RAB3GAP1 Zornitza Stark edited their review of gene: RAB3GAP1: Changed publications: 15696165, 20512159, 23420520, 23420520, 30730599; Changed phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420
Cataract v0.282 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Cataract v0.282 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Cataract v0.282 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from to Cataract 18, MIM#610019
Cataract v0.281 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.280 FYCO1 Zornitza Stark Mode of inheritance for gene: FYCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.279 FYCO1 Teresa Zhao reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32355443; Phenotypes: Cataract 18 (MIN#610019) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.279 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Cataract v0.279 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Cataract v0.278 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.277 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Cataract v0.277 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.276 FAR1 Zornitza Stark edited their review of gene: FAR1: Changed phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154, Cataracts, spastic paraparesis, and speech delay, MIM#619338
Cataract v0.276 MED27 Zornitza Stark Marked gene: MED27 as ready
Cataract v0.276 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cataract v0.276 MED27 Zornitza Stark Classified gene: MED27 as Green List (high evidence)
Cataract v0.276 MED27 Zornitza Stark Gene: med27 has been classified as Green List (High Evidence).
Cataract v0.275 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Cataract. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286
Review for gene: MED27 was set to GREEN
Added comment: 16 individuals from 11 families reported.
Sources: Literature
Cataract v0.274 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Cataract v0.274 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.274 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Cataract v0.273 FAR1 Zornitza Stark Publications for gene: FAR1 were set to PMID: 33239752
Cataract v0.272 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.271 FAR1 Zornitza Stark reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.271 FAR1 Chirag Patel Classified gene: FAR1 as Green List (high evidence)
Cataract v0.271 FAR1 Chirag Patel Gene: far1 has been classified as Green List (High Evidence).
Cataract v0.270 FAR1 Chirag Patel gene: FAR1 was added
gene: FAR1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAR1 were set to PMID: 33239752
Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts
Review for gene: FAR1 was set to GREEN
Added comment: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Cataract v0.269 COPB1 Zornitza Stark Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts
Cataract v0.268 COPB1 Zornitza Stark edited their review of gene: COPB1: Changed phenotypes: Baralle-Macken syndrome, MIM# 619255, Severe intellectual disability, variable microcephaly, cataracts
Cataract v0.268 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Cataract v0.268 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Green List (High Evidence).
Cataract v0.268 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; MONDO:0014793
Cataract v0.267 COPB1 Zornitza Stark Marked gene: COPB1 as ready
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.267 COPB1 Zornitza Stark Classified gene: COPB1 as Amber List (moderate evidence)
Cataract v0.267 COPB1 Zornitza Stark Gene: copb1 has been classified as Amber List (Moderate Evidence).
Cataract v0.266 COPB1 Zornitza Stark gene: COPB1 was added
gene: COPB1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts
Review for gene: COPB1 was set to AMBER
Added comment: Two unrelated families, some supportive functional data.
Sources: Literature
Cataract v0.265 SC5D Zornitza Stark Marked gene: SC5D as ready
Cataract v0.265 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Cataract v0.265 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from to Lathosterolosis, MIM# 607330
Cataract v0.264 SC5D Zornitza Stark Publications for gene: SC5D were set to
Cataract v0.263 SC5D Zornitza Stark Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.262 SC5D Zornitza Stark reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.262 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Cataract v0.261 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Cataract v0.260 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.260 NSUN2 Tiong Tan Marked gene: NSUN2 as ready
Cataract v0.260 NSUN2 Tiong Tan Gene: nsun2 has been classified as Red List (Low Evidence).
Cataract v0.260 NSUN2 Tiong Tan edited their review of gene: NSUN2: Changed publications: 33084202
Cataract v0.260 NSUN2 Tiong Tan gene: NSUN2 was added
gene: NSUN2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features
Penetrance for gene: NSUN2 were set to Complete
Review for gene: NSUN2 was set to AMBER
Added comment: Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: Literature
Cataract v0.259 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Cataract v0.259 ZNF526 Zornitza Stark Marked gene: ZNF526 as ready
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.259 ZNF526 Zornitza Stark Classified gene: ZNF526 as Green List (high evidence)
Cataract v0.259 ZNF526 Zornitza Stark Gene: znf526 has been classified as Green List (High Evidence).
Cataract v0.258 ZNF526 Zornitza Stark gene: ZNF526 was added
gene: ZNF526 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992; 25558065; 33397746
Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Review for gene: ZNF526 was set to GREEN
Added comment: - PMID: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Sources: Literature
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from Cataract 1, multiple types, MIM# 116200; Microphthalmia to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.257 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Cataract v0.257 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Cataract v0.257 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Cataract v0.256 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Cataract v0.255 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.254 GJA8 Zornitza Stark reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.254 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Cataract v0.254 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Cataract v0.254 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2, MIM# 614225
Cataract v0.253 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Cataract v0.252 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP2 Zornitza Stark changed review comment from: Multiple families reported, well established gene-disease association.; to: Multiple families reported, well established gene-disease association. Cataract is a feature.
Cataract v0.251 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome 1, MIM# 600118 to Warburg micro syndrome 1, MIM# 600118
Cataract v0.251 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Cataract v0.251 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Cataract v0.251 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from to Warburg micro syndrome 1, MIM# 600118
Cataract v0.250 RAB3GAP1 Zornitza Stark Publications for gene: RAB3GAP1 were set to
Cataract v0.249 RAB3GAP1 Zornitza Stark Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.248 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.248 PXDN Zornitza Stark Marked gene: PXDN as ready
Cataract v0.248 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Cataract v0.248 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from to Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Cataract v0.247 PXDN Zornitza Stark Publications for gene: PXDN were set to
Cataract v0.246 PXDN Zornitza Stark Mode of inheritance for gene: PXDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 PXDN Zornitza Stark reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907015, 24939590, 32499604, 32224865, 32015378, 31817535; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.245 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.245 DPAGT1 Zornitza Stark Classified gene: DPAGT1 as Green List (high evidence)
Cataract v0.245 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
Cataract v0.244 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22492991; 22304930; 31153949; 30653653; 30117111
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964
Review for gene: DPAGT1 was set to GREEN
Added comment: Cataracts reported in more than 3 unrelated families with this Type I CDG. Other common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. Additional features that may be observed include apnoea and respiratory deficiency, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. Overall, more than 20 unrelated families reported.
Sources: Expert Review
Cataract v0.243 ANAPC1 Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
Cataract v0.243 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund Thomson syndrome type 1, OMIM 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.243 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Cataract v0.243 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Cataract v0.243 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Cataract v0.242 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Cataract v0.241 JAM3 Zornitza Stark Mode of inheritance for gene: JAM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.240 JAM3 Zornitza Stark reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.240 ARL2 Zornitza Stark Marked gene: ARL2 as ready
Cataract v0.240 ARL2 Zornitza Stark Gene: arl2 has been classified as Red List (Low Evidence).
Cataract v0.240 ARL2 Zornitza Stark gene: ARL2 was added
gene: ARL2 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARL2 were set to 30945270
Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Review for gene: ARL2 was set to RED
Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters).
Sources: Expert list
Cataract v0.239 TKFC Zornitza Stark edited their review of gene: TKFC: Changed phenotypes: Triokinase and FMN cyclase deficiency syndrome, MIM#618805, Developmental delay, cataracts, liver dysfunction
Cataract v0.239 TKFC Zornitza Stark Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction
Cataract v0.238 SREBF1 Zornitza Stark Marked gene: SREBF1 as ready
Cataract v0.238 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
Cataract v0.238 SREBF1 Zornitza Stark Classified gene: SREBF1 as Green List (high evidence)
Cataract v0.238 SREBF1 Zornitza Stark Gene: srebf1 has been classified as Green List (High Evidence).
Cataract v0.237 SREBF1 Zornitza Stark gene: SREBF1 was added
gene: SREBF1 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SREBF1 were set to 31790666; 32902915
Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310
Review for gene: SREBF1 was set to GREEN
Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses.
Sources: Expert Review
Cataract v0.236 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Cataract v0.236 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Cataract v0.236 EPG5 Zornitza Stark Classified gene: EPG5 as Green List (high evidence)
Cataract v0.236 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Cataract v0.235 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 26917586
Phenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840
Review for gene: EPG5 was set to GREEN
Added comment: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported.
Sources: Expert Review
Cataract v0.234 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Cataract v0.234 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Red List (Low Evidence).
Cataract v0.234 COL9A2 Zornitza Stark Classified gene: COL9A2 as Red List (low evidence)
Cataract v0.234 COL9A2 Zornitza Stark Gene: col9a2 has been classified as Red List (Low Evidence).
Cataract v0.233 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 31090205, 21671392; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.233 COL9A2 Natalie Tan gene: COL9A2 was added
gene: COL9A2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493
Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284
Review for gene: COL9A2 was set to GREEN
Added comment: Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.]
Sources: Literature
Cataract v0.233 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Cataract v0.233 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Amber List (Moderate Evidence).
Cataract v0.233 COL9A1 Zornitza Stark Classified gene: COL9A1 as Amber List (moderate evidence)
Cataract v0.233 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Amber List (Moderate Evidence).
Cataract v0.232 COL9A1 Zornitza Stark reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21421862; Phenotypes: Stickler syndrome, type IV, OMIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.232 COL9A1 Natalie Tan gene: COL9A1 was added
gene: COL9A1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL9A1 were set to PMID: 21421862; 16909383
Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134
Review for gene: COL9A1 was set to GREEN
Added comment: At least three families reported.
Sources: Literature
Cataract v0.232 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Cataract v0.231 NUP188 Zornitza Stark edited their review of gene: NUP188: Changed phenotypes: Sandestig-Stefanova syndrome, 618804, microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Cataract v0.231 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to 28837160; 21436445
Cataract v0.230 TDRD7 Zornitza Stark edited their review of gene: TDRD7: Added comment: PMID: 32420594 (2020) - Knockout mouse model recapitulates human cataracts phenotype and provides supporting functional data.; Changed publications: 28837160, 21436445, 32420594; Changed phenotypes: Cataract 36, 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis
Cataract v0.230 RAB18 Zornitza Stark Tag founder tag was added to gene: RAB18.
Cataract v0.230 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Cataract v0.230 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Cataract v0.230 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Cataract v0.229 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Cataract v0.228 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.227 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.227 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.227 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.226 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Cataract v0.225 BCOR Zornitza Stark Marked gene: BCOR as ready
Cataract v0.225 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Cataract v0.225 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Cataract v0.224 BCOR Zornitza Stark Publications for gene: BCOR were set to
Cataract v0.223 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Cataract v0.222 BCOR Zornitza Stark reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.222 ITPA Zornitza Stark Marked gene: ITPA as ready
Cataract v0.222 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cataract v0.222 ITPA Zornitza Stark Phenotypes for gene: ITPA were changed from to Epileptic encephalopathy, early infantile, 35, MIM# 616647
Cataract v0.221 ITPA Zornitza Stark Publications for gene: ITPA were set to
Cataract v0.220 ITPA Zornitza Stark Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.219 ITPA Zornitza Stark Classified gene: ITPA as Amber List (moderate evidence)
Cataract v0.219 ITPA Zornitza Stark Gene: itpa has been classified as Amber List (Moderate Evidence).
Cataract v0.218 ITPA Zornitza Stark reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 26224535, 30816001; Phenotypes: Epileptic encephalopathy, early infantile, 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.218 LCAT Zornitza Stark Classified gene: LCAT as Amber List (moderate evidence)
Cataract v0.218 LCAT Zornitza Stark Gene: lcat has been classified as Amber List (Moderate Evidence).
Cataract v0.217 LMX1B Zornitza Stark Classified gene: LMX1B as Amber List (moderate evidence)
Cataract v0.217 LMX1B Zornitza Stark Gene: lmx1b has been classified as Amber List (Moderate Evidence).
Cataract v0.216 LMX1B Zornitza Stark changed review comment from: Cataract is a feature of nail-patella syndrome.; to: Cataract is a reported feature of nail-patella syndrome but the typical finding is that of glaucoma.
Cataract v0.216 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed rating: AMBER
Cataract v0.216 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Cataract v0.216 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Cataract v0.216 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome, MIM# 161200
Cataract v0.215 LMX1B Zornitza Stark Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.214 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.214 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Cataract v0.214 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Cataract v0.214 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Cataract v0.213 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.212 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Amber List (moderate evidence)
Cataract v0.212 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Cataract v0.211 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.211 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Cataract v0.211 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Cataract v0.211 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850
Cataract v0.210 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.209 GJA1 Zornitza Stark Classified gene: GJA1 as Red List (low evidence)
Cataract v0.209 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Cataract v0.208 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.208 LCAT Zornitza Stark Marked gene: LCAT as ready
Cataract v0.208 LCAT Zornitza Stark Added comment: Comment when marking as ready: Some phenotypic overlap.
Cataract v0.208 LCAT Zornitza Stark Gene: lcat has been classified as Red List (Low Evidence).
Cataract v0.208 LCAT Zornitza Stark Classified gene: LCAT as Red List (low evidence)
Cataract v0.208 LCAT Zornitza Stark Gene: lcat has been classified as Red List (Low Evidence).
Cataract v0.207 ISPD Zornitza Stark reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643; Mode of inheritance: None
Cataract v0.207 LCAT Dean Phelan gene: LCAT was added
gene: LCAT was added to Cataract. Sources: Literature
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: LCAT was set to RED
Added comment: OMIM:
Norum disease (AR) - Corneal lipid deposits, Corneal opacities
Fish-eye disease (AR) - Corneal opacities

Discussion with ZS - Corneal opacities not the same as cataracts and often misdiagnosed. Therefore leave as Red at this stage.
Sources: Literature
Cataract v0.207 ISPD Seb Lunke Marked gene: ISPD as ready
Cataract v0.207 ISPD Seb Lunke Gene: ispd has been classified as Green List (High Evidence).
Cataract v0.207 ISPD Seb Lunke Classified gene: ISPD as Green List (high evidence)
Cataract v0.207 ISPD Seb Lunke Gene: ispd has been classified as Green List (High Evidence).
Cataract v0.206 ISPD Seb Lunke gene: ISPD was added
gene: ISPD was added to Cataract. Sources: Literature
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 22522421; 22522420
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MIM#614643
Added comment: >10 independent patients with congential cataract as part of muscular dystrophy presentation, plus functional studies in zebra fish.
Sources: Literature
Cataract v0.205 GFER Seb Lunke Marked gene: GFER as ready
Cataract v0.205 GFER Seb Lunke Gene: gfer has been classified as Green List (High Evidence).
Cataract v0.205 GFER Seb Lunke Publications for gene: GFER were set to 19409522; 25269795
Cataract v0.204 GFER Seb Lunke Classified gene: GFER as Green List (high evidence)
Cataract v0.204 GFER Seb Lunke Gene: gfer has been classified as Green List (High Evidence).
Cataract v0.203 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Cataract v0.203 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Cataract v0.203 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Green List (high evidence)
Cataract v0.203 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Cataract v0.202 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Cataract v0.202 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Cataract v0.202 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Cataract v0.202 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Cataract v0.201 GFER Paul De Fazio changed review comment from: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; to: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families (PMID: 28155230).
Cataract v0.201 GFER Paul De Fazio edited their review of gene: GFER: Added comment: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; Changed rating: GREEN; Changed publications: 19409522, 25269795,28155230
Cataract v0.201 GTF2H5 Ain Roesley edited their review of gene: GTF2H5: Changed publications: 15220921, 24986372
Cataract v0.201 LONP1 Naomi Baker changed review comment from: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517).
Sources: Literature; to: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517).
Sources: Literature
Cataract v0.201 GTF2H5 Ain Roesley gene: GTF2H5 was added
gene: GTF2H5 was added to Cataract. Sources: Literature
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 15220921,24986372
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive (MIM# 616395)
Penetrance for gene: GTF2H5 were set to unknown
Review for gene: GTF2H5 was set to GREEN
Added comment: PMID: 24986372;
A 5‐year‐old male, born as a collodion baby from healthy non‐consanguineous parents, exhibited sun sensitivity, brittle hair, ichthyosis, cataracts and mental/physical retardation. He demonstrated neither neurological abnormalities nor pigmentary changes following sun exposure. Homozygous for a nonsense variant.

PMID: 15220921;
2 out of 4 patients have cataracts. The 2 patients without cataracts are siblings. (2x homs for PTVs, 1x chet for PTV and missense)
Sources: Literature
Cataract v0.201 LONP1 Naomi Baker gene: LONP1 was added
gene: LONP1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826; 29408517.
Phenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373
Penetrance for gene: LONP1 were set to Complete
Review for gene: LONP1 was set to GREEN
Added comment: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517).
Sources: Literature
Cataract v0.201 GFER Paul De Fazio changed review comment from: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature; to: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature
Cataract v0.201 GEMIN4 Seb Lunke edited their review of gene: GEMIN4: Changed rating: AMBER; Changed phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Cataract v0.201 GFER Paul De Fazio gene: GFER was added
gene: GFER was added to Cataract. Sources: Literature
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522; 25269795
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076
Review for gene: GFER was set to AMBER
gene: GFER was marked as current diagnostic
Added comment: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature
Cataract v0.201 GLS Zornitza Stark Marked gene: GLS as ready
Cataract v0.201 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Cataract v0.201 GLS Zornitza Stark Classified gene: GLS as Amber List (moderate evidence)
Cataract v0.201 GLS Zornitza Stark Gene: gls has been classified as Amber List (Moderate Evidence).
Cataract v0.200 GLS Zornitza Stark gene: GLS was added
gene: GLS was added to Cataract. Sources: Expert list
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 30239721
Phenotypes for gene: GLS were set to Infantile cataracts
Review for gene: GLS was set to AMBER
Added comment: Single family and a zebrafish model.
Sources: Expert list
Cataract v0.199 GEMIN4 Seb Lunke Marked gene: GEMIN4 as ready
Cataract v0.199 GEMIN4 Seb Lunke Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Cataract v0.199 GEMIN4 Seb Lunke Classified gene: GEMIN4 as Amber List (moderate evidence)
Cataract v0.199 GEMIN4 Seb Lunke Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Cataract v0.198 GEMIN4 Seb Lunke Marked gene: GEMIN4 as ready
Cataract v0.198 GEMIN4 Seb Lunke Added comment: Comment when marking as ready: 5 individuals from 3 consanguineous families reported originally; same homozygous missense in all. Another individual reported with different variant as part of a study reporting large number of novel/emerging genes in consanguineous cohort.
Cataract v0.198 GEMIN4 Seb Lunke Gene: gemin4 has been classified as Green List (High Evidence).
Cataract v0.198 GEMIN4 Seb Lunke Classified gene: GEMIN4 as Green List (high evidence)
Cataract v0.198 GEMIN4 Seb Lunke Gene: gemin4 has been classified as Green List (High Evidence).
Cataract v0.197 GEMIN4 Seb Lunke gene: GEMIN4 was added
gene: GEMIN4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 25558065; 27878435
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Review for gene: GEMIN4 was set to GREEN
Added comment: From GEL: PMID: 25558065 reported on 5 affected patients from 3 unrelated consanguineous Saudi families with neurodevelopmental disorder, microcephaly cataracts and renal abnormalities. PMID: 27878435 reported on a different family with a different variant that was previously reported. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects.
Sources: Literature
Cataract v0.196 NHS Zornitza Stark Marked gene: NHS as ready
Cataract v0.196 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Cataract v0.196 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome (MIM# 302350)
Cataract v0.195 NHS Zornitza Stark Publications for gene: NHS were set to
Cataract v0.194 NHS Zornitza Stark Mode of inheritance for gene: NHS 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)
Cataract v0.193 NF2 Zornitza Stark Marked gene: NF2 as ready
Cataract v0.193 NF2 Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence).
Cataract v0.193 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2 (MIM# 101000)
Cataract v0.192 NF2 Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.191 NDP Ain Roesley changed review comment from: Classified as "definitive" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611); to: Classified as "definitive" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611)

Progressive cataract is a feature of Norrie Disease (Genereviews, OMIM)
Cataract v0.191 NDP Zornitza Stark Marked gene: NDP as ready
Cataract v0.191 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Cataract v0.191 NDP Zornitza Stark Phenotypes for gene: NDP were changed from to Norrie disease (MIM# 310600)
Cataract v0.190 NDP Zornitza Stark Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.189 FKTN Zornitza Stark Marked gene: FKTN as ready
Cataract v0.189 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cataract v0.189 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract
Cataract v0.188 FKTN Zornitza Stark Publications for gene: FKTN were set to
Cataract v0.187 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.186 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Cataract v0.186 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Cataract v0.185 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Cataract v0.185 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Cataract v0.185 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700; Weill-Marchesani syndrome 2, dominant, MIM# 608328
Cataract v0.184 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.183 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Cataract v0.183 ESCO2 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Cataract v0.183 ESCO2 Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
Cataract v0.183 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Cataract v0.183 ESCO2 Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
Cataract v0.183 ESCO2 Zornitza Stark Classified gene: ESCO2 as Amber List (moderate evidence)
Cataract v0.183 ESCO2 Zornitza Stark Gene: esco2 has been classified as Amber List (Moderate Evidence).
Cataract v0.182 NACC1 Zornitza Stark Marked gene: NACC1 as ready
Cataract v0.182 NACC1 Zornitza Stark Gene: nacc1 has been classified as Green List (High Evidence).
Cataract v0.182 NACC1 Zornitza Stark Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)
Cataract v0.181 NACC1 Zornitza Stark Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.180 NHS Ain Roesley reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796; Phenotypes: Nance-Horan syndrome (MIM# 302350); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.180 NF2 Ain Roesley reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.180 NDP Ain Roesley reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease (MIM# 310600); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.180 FKTN Seb Lunke reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 18177472, 17878207; Phenotypes: Limb Girdle Muscular Dystrophy with No Mental Retardation, Congenital Cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.180 FKRP Seb Lunke reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26833294; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.180 FBN1 Seb Lunke reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.180 ESCO2 Seb Lunke gene: ESCO2 was added
gene: ESCO2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 19574259
Phenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300
Review for gene: ESCO2 was set to AMBER
Added comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2.
Sources: Literature
Cataract v0.179 NACC1 Ain Roesley reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.179 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from leukodystrophy; congenital cataracts to leukodystrophy; congenital cataracts; Leukoencephalopathy with vanishing white matter, MIM# 603896
Cataract v0.178 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.178 EIF2B2 Seb Lunke Marked gene: EIF2B2 as ready
Cataract v0.178 EIF2B2 Seb Lunke Gene: eif2b2 has been classified as Green List (High Evidence).
Cataract v0.178 EIF2B2 Seb Lunke Classified gene: EIF2B2 as Green List (high evidence)
Cataract v0.178 EIF2B2 Seb Lunke Gene: eif2b2 has been classified as Green List (High Evidence).
Cataract v0.177 EIF2B2 Seb Lunke gene: EIF2B2 was added
gene: EIF2B2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 21484434; 14566705; 28041799
Phenotypes for gene: EIF2B2 were set to leukodystrophy; congenital cataracts
gene: EIF2B2 was marked as current diagnostic
Added comment: From GEL: There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene.
Sources: Literature
Cataract v0.176 CTDP1 Zornitza Stark edited their review of gene: CTDP1: Changed rating: GREEN
Cataract v0.176 CTDP1 Zornitza Stark edited their review of gene: CTDP1: Changed publications: 14517542, 24690360, 25529582
Cataract v0.176 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Cataract v0.176 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Cataract v0.176 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Cataract v0.175 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Cataract v0.174 CTDP1 Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.173 CTDP1 Zornitza Stark Classified gene: CTDP1 as Amber List (moderate evidence)
Cataract v0.173 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Cataract v0.172 CTDP1 Zornitza Stark Tag founder tag was added to gene: CTDP1.
Cataract v0.172 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14517542, 24690360; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.172 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Cataract v0.172 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Red List (Low Evidence).
Cataract v0.172 DYRK1A Seb Lunke gene: DYRK1A was added
gene: DYRK1A was added to Cataract. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 28053047; 25944381
Phenotypes for gene: DYRK1A were set to congenital cataracts
Review for gene: DYRK1A was set to RED
Added comment: Really only one patient where cataract has been attributed directly to DYRK1A variant, 13 others with DYRK1A variants did not have cataracts (28053047). Second mention of cataract the gene was part of a large multi-gene deletion, and again other patients with DYRK1A (28053047) variants did not have cataract. Insufficient evidence.
Sources: Literature
Cataract v0.171 DNMBP Seb Lunke Marked gene: DNMBP as ready
Cataract v0.171 DNMBP Seb Lunke Gene: dnmbp has been classified as Green List (High Evidence).
Cataract v0.171 DNMBP Seb Lunke Classified gene: DNMBP as Green List (high evidence)
Cataract v0.171 DNMBP Seb Lunke Gene: dnmbp has been classified as Green List (High Evidence).
Cataract v0.170 DNMBP Seb Lunke gene: DNMBP was added
gene: DNMBP was added to Cataract. Sources: Literature
Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMBP were set to 30290152
Phenotypes for gene: DNMBP were set to congenital cataract
Review for gene: DNMBP was set to GREEN
gene: DNMBP was marked as current diagnostic
Added comment: Multiple individuals from three independent large consanguineous families with bilateral infantile cataracts. Seperate hom nonsense variants.
Sources: Literature
Cataract v0.169 CRYGA Seb Lunke Tag refuted was removed from gene: CRYGA.
Tag disputed tag was added to gene: CRYGA.
Cataract v0.169 CRYGA Zornitza Stark Tag refuted tag was added to gene: CRYGA.
Cataract v0.169 ADAMTSL4 Zornitza Stark Marked gene: ADAMTSL4 as ready
Cataract v0.169 ADAMTSL4 Zornitza Stark Gene: adamtsl4 has been classified as Red List (Low Evidence).
Cataract v0.169 ADAMTSL4 Zornitza Stark reviewed gene: ADAMTSL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cataract v0.169 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Cataract v0.168 ABHD12 Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.168 CRYGA Seb Lunke Marked gene: CRYGA as ready
Cataract v0.168 CRYGA Seb Lunke Gene: cryga has been classified as Red List (Low Evidence).
Cataract v0.168 CRYGA Seb Lunke gene: CRYGA was added
gene: CRYGA was added to Cataract. Sources: Literature
Mode of inheritance for gene: CRYGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYGA were set to 30450742; 28839118
Review for gene: CRYGA was set to RED
Added comment: Reported as potentially disease causing in multiple individuals from two seperate families, but in both cases variant is present in the general population (20 Hets for one variant, >1000 hets and 9 homs in other variant)
Sources: Literature
Cataract v0.167 AKR1E2 Seb Lunke Marked gene: AKR1E2 as ready
Cataract v0.167 AKR1E2 Seb Lunke Gene: akr1e2 has been classified as Red List (Low Evidence).
Cataract v0.167 AKR1E2 Seb Lunke gene: AKR1E2 was added
gene: AKR1E2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: AKR1E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1E2 were set to 26622071; 26622071
Phenotypes for gene: AKR1E2 were set to congenital cararact
Review for gene: AKR1E2 was set to RED
Added comment: Same family with homozygous canonical splice variants and 3 cases of congenital cataract described in 2012 (original) and 2015 (review). No other descriptions since.
Sources: Literature
Cataract v0.166 ADAMTSL4 Seb Lunke gene: ADAMTSL4 was added
gene: ADAMTSL4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL4 were set to 22338190; 20702823
Phenotypes for gene: ADAMTSL4 were set to ectopia lentis; cataract
Review for gene: ADAMTSL4 was set to RED
Added comment: Early onset cataract described in multiple patients with variants in ADAMTSL4 as a secondary manifestation to Ectopia lentis et pupillae (MIM 225200)
Sources: Literature
Cataract v0.165 ABHD12 Seb Lunke Marked gene: ABHD12 as ready
Cataract v0.165 ABHD12 Seb Lunke Gene: abhd12 has been classified as Green List (High Evidence).
Cataract v0.165 ABHD12 Seb Lunke Classified gene: ABHD12 as Green List (high evidence)
Cataract v0.165 ABHD12 Seb Lunke Gene: abhd12 has been classified as Green List (High Evidence).
Cataract v0.164 ABHD12 Seb Lunke gene: ABHD12 was added
gene: ABHD12 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 32077159; 29571850; 28448692; 24697911
Phenotypes for gene: ABHD12 were set to Polyneuropathy; Hearing loss; Ataxia; Retinitis pigmentosa; Cataracts
Added comment: Two siblings each from two families with hom nonsense and PHARC syndrome and early on-set cataract, and a complex homozygous nonsense variant in an adult with early on-set cataract have been descibed recently in addition to original mutations described in 11 families from 4 different countries (Fiskerstrand et al (2010)). Total over 10 independent cases mentioned in literature.
Sources: Literature
Cataract v0.162 PLOD3 Zornitza Stark edited their review of gene: PLOD3: Changed rating: GREEN
Cataract v0.162 PLOD3 Zornitza Stark edited their review of gene: PLOD3: Changed phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394
Cataract v0.162 POLG Zornitza Stark Marked gene: POLG as ready
Cataract v0.162 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Cataract v0.162 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to POLG-related disorders
Cataract v0.161 POLG Zornitza Stark Publications for gene: POLG were set to
Cataract v0.160 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.159 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791, 29358615, 22405928; Phenotypes: POLG-related disorders; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.159 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Cataract v0.159 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Cataract v0.159 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Cataract v0.159 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Cataract v0.158 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 27878435; 31932796
Phenotypes for gene: RIC1 were set to CATIFA syndrome, MIM# 618761
Review for gene: RIC1 was set to AMBER
Added comment: 8 individuals from two consanguineous families, homozygous for same missense variant (founder effect). Cataract is a key feature of the phenotype.
Sources: Expert list
Cataract v0.157 SLC16A12 Zornitza Stark Marked gene: SLC16A12 as ready
Cataract v0.157 SLC16A12 Zornitza Stark Gene: slc16a12 has been classified as Green List (High Evidence).
Cataract v0.157 SLC16A12 Zornitza Stark Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea 612018
Cataract v0.156 SLC16A12 Zornitza Stark Publications for gene: SLC16A12 were set to
Cataract v0.155 SLC16A12 Zornitza Stark Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.154 SLC16A12 Zornitza Stark reviewed gene: SLC16A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 20181839, 21778275, 18304496, 29088427; Phenotypes: Cataract 47, juvenile, with microcornea 612018; Mode of inheritance: None
Cataract v0.154 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Cataract v0.154 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Cataract v0.154 WFS1 Zornitza Stark Classified gene: WFS1 as Green List (high evidence)
Cataract v0.154 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Cataract v0.153 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 32350710
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, MIM# 222300
Review for gene: WFS1 was set to GREEN
Added comment: Cataracts reported in ~40% in a cohort of affected individuals.
Sources: Expert list
Cataract v0.152 XYLT2 Zornitza Stark Marked gene: XYLT2 as ready
Cataract v0.152 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Cataract v0.152 XYLT2 Zornitza Stark Classified gene: XYLT2 as Green List (high evidence)
Cataract v0.152 XYLT2 Zornitza Stark Gene: xylt2 has been classified as Green List (High Evidence).
Cataract v0.151 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, MIM# 605822
Review for gene: XYLT2 was set to GREEN
Added comment: Cataracts are a key feature of this condition.
Sources: Expert list
Cataract v0.150 ADD3 Zornitza Stark Marked gene: ADD3 as ready
Cataract v0.150 ADD3 Zornitza Stark Gene: add3 has been classified as Amber List (Moderate Evidence).
Cataract v0.150 ADD3 Zornitza Stark Classified gene: ADD3 as Amber List (moderate evidence)
Cataract v0.150 ADD3 Zornitza Stark Gene: add3 has been classified as Amber List (Moderate Evidence).
Cataract v0.149 ADD3 Elena Savva gene: ADD3 was added
gene: ADD3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADD3 were set to PMID: 29768408; 23836506
Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 617008
Review for gene: ADD3 was set to AMBER
Added comment: PMID: 29768408;23836506 - 4/5 patients (2 families) with early-onset bilateral cataracts

Two families, emerging gene
Sources: Literature
Cataract v0.149 SIL1 Zornitza Stark Marked gene: SIL1 as ready
Cataract v0.149 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Cataract v0.149 SIL1 Zornitza Stark Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome (MIM#248800)
Cataract v0.148 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Cataract v0.147 SIL1 Zornitza Stark Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.146 SIL1 Crystle Lee reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16282977, 24176978; Phenotypes: Marinesco-Sjogren syndrome (MIM#248800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.146 HSF4 Zornitza Stark Marked gene: HSF4 as ready
Cataract v0.146 HSF4 Zornitza Stark Gene: hsf4 has been classified as Green List (High Evidence).
Cataract v0.146 HSF4 Zornitza Stark Phenotypes for gene: HSF4 were changed from to Cataract 5, multiple types, 116800
Cataract v0.145 HSF4 Zornitza Stark Publications for gene: HSF4 were set to
Cataract v0.144 HSF4 Zornitza Stark Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.143 HSF4 Chern Lim reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31815953, 29243736, 26490182; Phenotypes: Cataract 5, multiple types, 116800.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Cataract v0.143 COG4 Zornitza Stark Marked gene: COG4 as ready
Cataract v0.143 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.143 COG4 Zornitza Stark Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Cataract v0.142 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from PMID: 31949312; 30290151 to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Cataract v0.141 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.141 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.140 COG4 Chirag Patel Classified gene: COG4 as Green List (high evidence)
Cataract v0.140 COG4 Chirag Patel Gene: cog4 has been classified as Green List (High Evidence).
Cataract v0.139 COG4 Chirag Patel gene: COG4 was added
gene: COG4 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489
Phenotypes for gene: COG4 were set to PMID: 31949312; 30290151
Review for gene: COG4 was set to GREEN
Added comment: Saul-Wilson syndrome (AD)
14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like)
All have a recurrent de novo heterozygous missense variant (p.Gly516Arg)

Congenital disorder of glycosylation, type IIj (AR)
Sources: Literature
Cataract v0.138 GALM Zornitza Stark Marked gene: GALM as ready
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.138 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Cataract v0.138 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Cataract v0.137 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to Cataract. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia. In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)

Note only two of the reported individuals had cataracts.
Sources: Literature
Cataract v0.136 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Cataract v0.136 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Cataract v0.136 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Cataract v0.135 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Cataract v0.134 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.133 TDRD7 Zornitza Stark reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 28837160, 21436445; Phenotypes: Cataract 36 613887, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.133 LSS Bryony Thompson Classified gene: LSS as Green List (high evidence)
Cataract v0.133 LSS Bryony Thompson Gene: lss has been classified as Green List (High Evidence).
Cataract v0.132 LSS Bryony Thompson changed review comment from: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature; to: Three families reported with congenital cataracts with biallelic variants in LSS. Mouse model with cataracts.
Sources: Literature
Cataract v0.132 LSS Bryony Thompson gene: LSS was added
gene: LSS was added to Cataract. Sources: Literature
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 26200341; 29016354
Phenotypes for gene: LSS were set to Cataract 44 MIM#616509
Review for gene: LSS was set to GREEN
Added comment: Three families reported with congenital cataracts with biallelic variants in LSS.
Sources: Literature
Cataract v0.131 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cataract v0.130 STXBP2 Bryony Thompson Classified gene: STXBP2 as Red List (low evidence)
Cataract v0.130 STXBP2 Bryony Thompson Gene: stxbp2 has been classified as Red List (Low Evidence).
Cataract v0.129 STXBP2 Bryony Thompson reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.129 SLC37A4 Bryony Thompson Marked gene: SLC37A4 as ready
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.129 SLC37A4 Bryony Thompson Classified gene: SLC37A4 as Red List (low evidence)
Cataract v0.129 SLC37A4 Bryony Thompson Gene: slc37a4 has been classified as Red List (Low Evidence).
Cataract v0.128 SLC37A4 Bryony Thompson reviewed gene: SLC37A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.128 SKIV2L Bryony Thompson Marked gene: SKIV2L as ready
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.128 SKIV2L Bryony Thompson Classified gene: SKIV2L as Red List (low evidence)
Cataract v0.128 SKIV2L Bryony Thompson Gene: skiv2l has been classified as Red List (Low Evidence).
Cataract v0.127 SKIV2L Bryony Thompson reviewed gene: SKIV2L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 2 MIM#614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.127 SIPA1L3 Bryony Thompson Marked gene: SIPA1L3 as ready
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.127 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Cataract v0.127 SIPA1L3 Bryony Thompson Added comment: Comment on list classification: There is growing evidence supporting biallelic inheritance
Cataract v0.127 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Cataract v0.126 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Cataract v0.125 SH2D1A Bryony Thompson Marked gene: SH2D1A as ready
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.125 SH2D1A Bryony Thompson Classified gene: SH2D1A as Red List (low evidence)
Cataract v0.125 SH2D1A Bryony Thompson Gene: sh2d1a has been classified as Red List (Low Evidence).
Cataract v0.124 SH2D1A Bryony Thompson reviewed gene: SH2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 1 MIM#308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.124 RET Bryony Thompson Classified gene: RET as Red List (low evidence)
Cataract v0.124 RET Bryony Thompson Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.123 RET Bryony Thompson reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.123 RAG2 Bryony Thompson Marked gene: RAG2 as ready
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.123 RAG2 Bryony Thompson Classified gene: RAG2 as Red List (low evidence)
Cataract v0.123 RAG2 Bryony Thompson Gene: rag2 has been classified as Red List (Low Evidence).
Cataract v0.122 RAG2 Bryony Thompson reviewed gene: RAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined cellular and humoral immune defects with granulomas MIM#233650, Omenn syndrome MIM#603554, Severe combined immunodeficiency, B cell-negative MIM#601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.122 POMT2 Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT2 Bryony Thompson Marked gene: POMT2 as ready
Cataract v0.121 POMT2 Bryony Thompson Gene: pomt2 has been classified as Green List (High Evidence).
Cataract v0.121 POMT2 Bryony Thompson reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15894594, 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.121 POMT1 Bryony Thompson Marked gene: POMT1 as ready
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.121 POMT1 Bryony Thompson Classified gene: POMT1 as Amber List (moderate evidence)
Cataract v0.121 POMT1 Bryony Thompson Gene: pomt1 has been classified as Amber List (Moderate Evidence).
Cataract v0.120 POMT1 Bryony Thompson reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17878207, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 MIM#236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 MIM#613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 MIM#609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.120 PLCG2 Bryony Thompson Marked gene: PLCG2 as ready
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.120 PLCG2 Bryony Thompson Classified gene: PLCG2 as Red List (low evidence)
Cataract v0.120 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Red List (Low Evidence).
Cataract v0.119 PLCG2 Bryony Thompson reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: Other; Publications: 23000145; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.119 OAT Bryony Thompson Marked gene: OAT as ready
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.119 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Cataract v0.119 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cataract v0.118 OAT Bryony Thompson gene: OAT was added
gene: OAT was added to Cataract. Sources: Expert list
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 22674428; 11297489
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Onset of cataract in the second/third decade is a common feature of this condition.
Sources: Expert list
Cataract v0.117 NCF4 Bryony Thompson Marked gene: NCF4 as ready
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.117 NCF4 Bryony Thompson Classified gene: NCF4 as Red List (low evidence)
Cataract v0.117 NCF4 Bryony Thompson Gene: ncf4 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF4 Bryony Thompson reviewed gene: NCF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.116 NCF2 Bryony Thompson Marked gene: NCF2 as ready
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.116 NCF2 Bryony Thompson Classified gene: NCF2 as Red List (low evidence)
Cataract v0.116 NCF2 Bryony Thompson Gene: ncf2 has been classified as Red List (Low Evidence).
Cataract v0.115 NCF2 Bryony Thompson reviewed gene: NCF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.115 NCF1 Bryony Thompson Classified gene: NCF1 as Red List (low evidence)
Cataract v0.115 NCF1 Bryony Thompson Gene: ncf1 has been classified as Red List (Low Evidence).
Cataract v0.114 NCF1 Bryony Thompson reviewed gene: NCF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.114 MSMO1 Bryony Thompson Classified gene: MSMO1 as Green List (high evidence)
Cataract v0.114 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Cataract v0.113 MSMO1 Bryony Thompson gene: MSMO1 was added
gene: MSMO1 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 21285510; 24144731; 28673550
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834
Review for gene: MSMO1 was set to GREEN
Added comment: At least 3 probands with biallelic variant and congenital cataract as a prominent feature of the condition.
Sources: Expert list
Cataract v0.112 LRBA Bryony Thompson Classified gene: LRBA as Red List (low evidence)
Cataract v0.112 LRBA Bryony Thompson Gene: lrba has been classified as Red List (Low Evidence).
Cataract v0.111 LRBA Bryony Thompson reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.111 LIG4 Bryony Thompson Classified gene: LIG4 as Red List (low evidence)
Cataract v0.111 LIG4 Bryony Thompson Gene: lig4 has been classified as Red List (Low Evidence).
Cataract v0.110 LIG4 Bryony Thompson reviewed gene: LIG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.110 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Cataract v0.109 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Cataract v0.108 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Cataract v0.108 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Cataract v0.107 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Cataract v0.107 TMEM70 Bryony Thompson Marked gene: TMEM70 as ready
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.107 TMEM70 Bryony Thompson Classified gene: TMEM70 as Amber List (moderate evidence)
Cataract v0.107 TMEM70 Bryony Thompson Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Cataract v0.106 TMEM70 Bryony Thompson gene: TMEM70 was added
gene: TMEM70 was added to Cataract. Sources: Expert list
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Review for gene: TMEM70 was set to AMBER
Added comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition.
Sources: Expert list
Cataract v0.105 TTC37 Bryony Thompson Marked gene: TTC37 as ready
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.105 TTC37 Bryony Thompson Classified gene: TTC37 as Red List (low evidence)
Cataract v0.105 TTC37 Bryony Thompson Gene: ttc37 has been classified as Red List (Low Evidence).
Cataract v0.104 TTC37 Bryony Thompson reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.104 WAS Bryony Thompson Marked gene: WAS as ready
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.104 WAS Bryony Thompson Classified gene: WAS as Red List (low evidence)
Cataract v0.104 WAS Bryony Thompson Gene: was has been classified as Red List (Low Evidence).
Cataract v0.103 WAS Bryony Thompson reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.103 XIAP Bryony Thompson Marked gene: XIAP as ready
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.103 XIAP Bryony Thompson Classified gene: XIAP as Red List (low evidence)
Cataract v0.103 XIAP Bryony Thompson Gene: xiap has been classified as Red List (Low Evidence).
Cataract v0.102 XIAP Bryony Thompson reviewed gene: XIAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.102 ZAP70 Bryony Thompson Marked gene: ZAP70 as ready
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.102 ZAP70 Bryony Thompson Classified gene: ZAP70 as Red List (low evidence)
Cataract v0.102 ZAP70 Bryony Thompson Gene: zap70 has been classified as Red List (Low Evidence).
Cataract v0.101 ZAP70 Bryony Thompson reviewed gene: ZAP70: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cataract v0.100 BTK Zornitza Stark Marked gene: BTK as ready
Cataract v0.100 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.100 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to X-linked agammaglobulinemia; isolated growth hormone deficiency type III with agammaglobulinemia
Cataract v0.99 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.98 BTK Zornitza Stark Classified gene: BTK as Red List (low evidence)
Cataract v0.98 BTK Zornitza Stark Gene: btk has been classified as Red List (Low Evidence).
Cataract v0.97 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Cataract v0.97 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.97 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1 (203300)
Cataract v0.96 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Cataract v0.95 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.94 HPS1 Zornitza Stark Classified gene: HPS1 as Amber List (moderate evidence)
Cataract v0.94 HPS1 Zornitza Stark Gene: hps1 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Cataract v0.93 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.93 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4 (614073)
Cataract v0.92 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Cataract v0.91 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.90 HPS4 Zornitza Stark Classified gene: HPS4 as Amber List (moderate evidence)
Cataract v0.90 HPS4 Zornitza Stark Gene: hps4 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Cataract v0.89 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.89 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6 (614075)
Cataract v0.88 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Cataract v0.87 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.86 HPS6 Zornitza Stark Classified gene: HPS6 as Amber List (moderate evidence)
Cataract v0.86 HPS6 Zornitza Stark Gene: hps6 has been classified as Amber List (Moderate Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.85 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Cataract v0.85 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Cataract v0.84 ICOS Zornitza Stark Marked gene: ICOS as ready
Cataract v0.84 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.84 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Common variable immunodeficiency 1 (604558)
Cataract v0.83 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.82 ICOS Zornitza Stark Classified gene: ICOS as Red List (low evidence)
Cataract v0.82 ICOS Zornitza Stark Gene: icos has been classified as Red List (Low Evidence).
Cataract v0.81 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Cataract v0.81 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.81 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti (308300); / Ectodermal dysplasia and immunodeficiency 1 (300291); Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301); Immunodeficiency 33 (300636); Immunodeficiency, isolated (300584); Invasive pneumococcal disease, recurrent isolated 2 (300640)
Cataract v0.80 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Cataract v0.79 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG 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)
Cataract v0.78 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Cataract v0.78 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Cataract v0.77 IL10 Zornitza Stark Marked gene: IL10 as ready
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.77 IL10 Zornitza Stark Classified gene: IL10 as Red List (low evidence)
Cataract v0.77 IL10 Zornitza Stark Gene: il10 has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Cataract v0.76 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Cataract v0.76 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from to Inflammatory bowel disease 28, early onset (613148)
Cataract v0.75 IL10RA Zornitza Stark Mode of inheritance for gene: IL10RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.74 IL10RA Zornitza Stark Classified gene: IL10RA as Red List (low evidence)
Cataract v0.74 IL10RA Zornitza Stark Gene: il10ra has been classified as Red List (Low Evidence).
Cataract v0.73 IL10RB Zornitza Stark Marked gene: IL10RB as ready
Cataract v0.73 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.73 IL10RB Zornitza Stark Phenotypes for gene: IL10RB were changed from to Inflammatory bowel disease 25, early onset (612567)
Cataract v0.72 IL10RB Zornitza Stark Mode of inheritance for gene: IL10RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.71 IL10RB Zornitza Stark Classified gene: IL10RB as Red List (low evidence)
Cataract v0.71 IL10RB Zornitza Stark Gene: il10rb has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Cataract v0.70 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Cataract v0.70 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from to Severe combined immunodeficiency, X-linked (300400); Moderate combined immunodeficiency, X-linked (312863)
Cataract v0.69 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.68 IL2RG Zornitza Stark Classified gene: IL2RG as Red List (low evidence)
Cataract v0.68 IL2RG Zornitza Stark Gene: il2rg has been classified as Red List (Low Evidence).
Cataract v0.67 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Cataract v0.67 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.67 ITGB2 Zornitza Stark Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency (MIM# 116920)
Cataract v0.66 ITGB2 Zornitza Stark Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.65 ITGB2 Zornitza Stark Classified gene: ITGB2 as Red List (low evidence)
Cataract v0.65 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Red List (Low Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cataract v0.64 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Cataract v0.64 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)
Cataract v0.63 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Cataract v0.62 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.61 LARGE1 Zornitza Stark Classified gene: LARGE1 as Amber List (moderate evidence)
Cataract v0.61 LARGE1 Zornitza Stark Gene: large1 has been classified as Amber List (Moderate Evidence).
Cataract v0.60 LARGE1 Lauren Akesson reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 17436019; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 ITGB2 Lauren Akesson reviewed gene: ITGB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency (MIM# 116920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 INTS1 Lauren Akesson reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (618571); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked (300400), Moderate combined immunodeficiency, X-linked (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL2RG Lauren Akesson Deleted their review
Cataract v0.60 IL2RG Lauren Akesson reviewed gene: IL2RG: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency (X-linked) (300400), Moderate combined immunodeficiency (X-linked) (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 IL10RB Lauren Akesson reviewed gene: IL10RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset (612567); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 IL10RA Lauren Akesson reviewed gene: IL10RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset (613148); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 IL10 Lauren Akesson reviewed gene: IL10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cataract v0.60 IKBKG Lauren Akesson reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22564885 (review), 12975158, 20499493, 10893071; Phenotypes: Incontinentia pigmenti (308300), / Ectodermal dysplasia and immunodeficiency 1 (300291), Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301), Immunodeficiency 33 (300636), Immunodeficiency, isolated (300584), Invasive pneumococcal disease, recurrent isolated 2 (300640); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.60 ICOS Lauren Akesson reviewed gene: ICOS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Common variable immunodeficiency 1 (604558); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HTRA2 Lauren Akesson gene: HTRA2 was added
gene: HTRA2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to PMID: 27696117; 27208207
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248)
Penetrance for gene: HTRA2 were set to unknown
Review for gene: HTRA2 was set to GREEN
Added comment: Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117).
Sources: Literature
Cataract v0.60 HPS6 Lauren Akesson reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 8719678; Phenotypes: Hermansky-Pudlak syndrome 6 (614075); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS4 Lauren Akesson reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8719678; Phenotypes: Hermansky-Pudlak syndrome 4 (614073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 HPS1 Lauren Akesson reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 8719678, 27058854; Phenotypes: Hermansky-Pudlak syndrome 1 (203300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.60 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Cataract v0.60 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Red List (Low Evidence).
Cataract v0.60 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Cataract v0.59 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.58 FOXP3 Zornitza Stark Classified gene: FOXP3 as Red List (low evidence)
Cataract v0.58 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Red List (Low Evidence).
Cataract v0.57 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Cataract v0.57 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Red List (Low Evidence).
Cataract v0.57 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhea 6, 614616; Meconium ileus, 614665
Cataract v0.56 GUCY2C Zornitza Stark Classified gene: GUCY2C as Red List (low evidence)
Cataract v0.56 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Red List (Low Evidence).
Cataract v0.55 CYBA Zornitza Stark Marked gene: CYBA as ready
Cataract v0.55 CYBA Zornitza Stark Gene: cyba has been classified as Red List (Low Evidence).
Cataract v0.55 CYBA Zornitza Stark Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease
Cataract v0.54 GUCY2C Lauren Akesson commented on gene: GUCY2C: Cataract does not appear to be a typical feature in these conditions (OMIM)
Cataract v0.54 CYBA Zornitza Stark Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.53 GUCY2C Lauren Akesson edited their review of gene: GUCY2C: Changed rating: RED
Cataract v0.53 CYBA Zornitza Stark Classified gene: CYBA as Red List (low evidence)
Cataract v0.53 CYBA Zornitza Stark Gene: cyba has been classified as Red List (Low Evidence).
Cataract v0.52 GUCY2C Lauren Akesson reviewed gene: GUCY2C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhea 6, 614616, Meconium ileus, 614665; Mode of inheritance: None
Cataract v0.52 CYBB Zornitza Stark Marked gene: CYBB as ready
Cataract v0.52 CYBB Zornitza Stark Gene: cybb has been classified as Red List (Low Evidence).
Cataract v0.52 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis
Cataract v0.51 CYBB Zornitza Stark Mode of inheritance for gene: CYBB 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)
Cataract v0.50 CYBB Zornitza Stark Classified gene: CYBB as Red List (low evidence)
Cataract v0.50 CYBB Zornitza Stark Gene: cybb has been classified as Red List (Low Evidence).
Cataract v0.49 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Cataract v0.49 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Red List (Low Evidence).
Cataract v0.49 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450
Cataract v0.48 DCLRE1C Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.47 DCLRE1C Zornitza Stark Classified gene: DCLRE1C as Red List (low evidence)
Cataract v0.47 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Red List (Low Evidence).
Cataract v0.46 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Cataract v0.46 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Cataract v0.46 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome 243700
Cataract v0.45 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Cataract v0.44 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.43 DOCK8 Zornitza Stark Tag SV/CNV tag was added to gene: DOCK8.
Cataract v0.43 DOCK8 Zornitza Stark Classified gene: DOCK8 as Red List (low evidence)
Cataract v0.43 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Cataract v0.42 EED Zornitza Stark Marked gene: EED as ready
Cataract v0.42 EED Zornitza Stark Added comment: Comment when marking as ready: Single individual reported, unclear at present whether this a feature of the phenotype or a coincidence.
Cataract v0.42 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Cataract v0.42 EED Zornitza Stark Classified gene: EED as Red List (low evidence)
Cataract v0.42 EED Zornitza Stark Gene: eed has been classified as Red List (Low Evidence).
Cataract v0.41 EPCAM Zornitza Stark Marked gene: EPCAM as ready
Cataract v0.41 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cataract v0.41 EPCAM Zornitza Stark Phenotypes for gene: EPCAM were changed from to Congenital diarrhoea 5 with tufting enteropathy; Lynch syndrome
Cataract v0.40 FOXP3 Lauren Akesson reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.40 EPCAM Zornitza Stark Publications for gene: EPCAM were set to
Cataract v0.39 EPCAM Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.38 EPCAM Zornitza Stark Classified gene: EPCAM as Red List (low evidence)
Cataract v0.38 EPCAM Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence).
Cataract v0.37 FKRP Zornitza Stark Marked gene: FKRP as ready
Cataract v0.37 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Cataract v0.37 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5
Cataract v0.36 FKRP Zornitza Stark Publications for gene: FKRP were set to
Cataract v0.35 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.34 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Cataract v0.34 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Cataract v0.33 FKRP Lauren Akesson reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30461124, 24139536, 20236121, 15833426; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5; Mode of inheritance: None
Cataract v0.33 EPCAM Lauren Akesson reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: 30461124; Phenotypes: Congenital diarrhoea 5 with tufting enteropathy, Lynch syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.33 EED Lauren Akesson gene: EED was added
gene: EED was added to Cataract. Sources: Literature
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EED were set to 25787343
Phenotypes for gene: EED were set to Cohen-Gibson syndrome
Penetrance for gene: EED were set to unknown
Review for gene: EED was set to AMBER
Added comment: Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506).
Sources: Literature
Cataract v0.33 DOCK8 Lauren Akesson reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736; Phenotypes: Hyper-IgE recurrent infection syndrome 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 DCLRE1C Lauren Akesson reviewed gene: DCLRE1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome 603554, Severe combined immunodeficiency, Athabascan type 602450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 CYBB Lauren Akesson reviewed gene: CYBB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, immunodeficiency 34 with mycobacteriosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cataract v0.33 CYBA Lauren Akesson reviewed gene: CYBA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.33 CD40LG Zornitza Stark Marked gene: CD40LG as ready
Cataract v0.33 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.33 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from to Immunodeficiency with Hyper-IgM type 1
Cataract v0.32 CD40LG Zornitza Stark Mode of inheritance for gene: CD40LG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.32 CD40LG Zornitza Stark Classified gene: CD40LG as Red List (low evidence)
Cataract v0.32 CD40LG Zornitza Stark Gene: cd40lg has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Marked gene: CD3G as ready
Cataract v0.31 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Cataract v0.31 CD3G Zornitza Stark Phenotypes for gene: CD3G were changed from to Immunodeficiency 17, CD3 gamma deficient
Cataract v0.30 CD3G Zornitza Stark Publications for gene: CD3G were set to
Cataract v0.30 CD3G Zornitza Stark Classified gene: CD3G as Red List (low evidence)
Cataract v0.30 CD3G Zornitza Stark Gene: cd3g has been classified as Red List (Low Evidence).
Cataract v0.29 AICDA Zornitza Stark Marked gene: AICDA as ready
Cataract v0.29 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Cataract v0.29 AICDA Zornitza Stark Phenotypes for gene: AICDA were changed from to Immunodeficiency with hyper-IgM, type 2 605258
Cataract v0.28 AICDA Zornitza Stark Publications for gene: AICDA were set to
Cataract v0.27 AICDA Zornitza Stark Classified gene: AICDA as Red List (low evidence)
Cataract v0.27 AICDA Zornitza Stark Gene: aicda has been classified as Red List (Low Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Cataract v0.26 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Cataract v0.26 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease
Cataract v0.25 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Cataract v0.24 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.23 ADAM17 Zornitza Stark Classified gene: ADAM17 as Red List (low evidence)
Cataract v0.23 ADAM17 Zornitza Stark Gene: adam17 has been classified as Red List (Low Evidence).
Cataract v0.22 CD40LG Lauren Akesson reviewed gene: CD40LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with Hyper-IgM type 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.22 CD3G Lauren Akesson reviewed gene: CD3G: Rating: RED; Mode of pathogenicity: None; Publications: 31921117; Phenotypes: Immunodeficiency 17, CD3 gamma deficient; Mode of inheritance: None
Cataract v0.22 ADA Zornitza Stark Marked gene: ADA as ready
Cataract v0.22 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Cataract v0.22 ADA Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency 102700
Cataract v0.21 ADA Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.20 ADA Zornitza Stark Classified gene: ADA as Red List (low evidence)
Cataract v0.20 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Cataract v0.19 BTK Lauren Akesson reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked agammaglobulinemia, isolated growth hormone deficiency type III with agammaglobulinemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.19 ANAPC1 Lauren Akesson reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: None
Cataract v0.19 AICDA Lauren Akesson reviewed gene: AICDA: Rating: RED; Mode of pathogenicity: None; Publications: 11007475, 27789066, 27142677, 19575287; Phenotypes: ; Mode of inheritance: None
Cataract v0.19 ADAM17 Lauren Akesson edited their review of gene: ADAM17: Changed publications: 22010916, 25804906, 21041656, 22236242
Cataract v0.19 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.19 ADA Lauren Akesson reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID-ADA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.19 PLOD3 Zornitza Stark Marked gene: PLOD3 as ready
Cataract v0.19 PLOD3 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green, unclear at present what proportion of affected individuals will have cataract as part of the phenotype.
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.19 PLOD3 Zornitza Stark Classified gene: PLOD3 as Green List (high evidence)
Cataract v0.19 PLOD3 Zornitza Stark Gene: plod3 has been classified as Green List (High Evidence).
Cataract v0.18 PLOD3 Lauren Akesson gene: PLOD3 was added
gene: PLOD3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968; 30463024; 31129566
Phenotypes for gene: PLOD3 were set to cataract
Penetrance for gene: PLOD3 were set to unknown
Review for gene: PLOD3 was set to GREEN
Added comment: Complex phenotype that includes cataracts in 3/5 described unrelated families
Sources: Literature
Cataract v0.18 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Cataract v0.18 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Cataract v0.18 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Cataract v0.17 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Cataract v0.16 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.15 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.15 TKFC Zornitza Stark Marked gene: TKFC as ready
Cataract v0.15 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cataract v0.15 TKFC Zornitza Stark Classified gene: TKFC as Amber List (moderate evidence)
Cataract v0.15 TKFC Zornitza Stark Gene: tkfc has been classified as Amber List (Moderate Evidence).
Cataract v0.14 TKFC Zornitza Stark gene: TKFC was added
gene: TKFC was added to Cataract. Sources: Literature
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction
Review for gene: TKFC was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Literature
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Marked gene: ANAPC1 as ready
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.13 ANAPC1 Alison Yeung Classified gene: ANAPC1 as Green List (high evidence)
Cataract v0.13 ANAPC1 Alison Yeung Gene: anapc1 has been classified as Green List (High Evidence).
Cataract v0.12 ANAPC1 Alison Yeung gene: ANAPC1 was added
gene: ANAPC1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to PMID: 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625
Review for gene: ANAPC1 was set to GREEN
gene: ANAPC1 was marked as current diagnostic
Added comment: 7 reported unrelated families
Sources: Literature
Cataract v0.11 PIK3C2A Zornitza Stark Marked gene: PIK3C2A as ready
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Cataract v0.11 PIK3C2A Zornitza Stark Classified gene: PIK3C2A as Green List (high evidence)
Cataract v0.11 PIK3C2A Zornitza Stark Gene: pik3c2a has been classified as Green List (High Evidence).
Cataract v0.10 PIK3C2A Zornitza Stark gene: PIK3C2A was added
gene: PIK3C2A was added to Cataract. Sources: Literature
Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3C2A were set to 31034465
Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440
Review for gene: PIK3C2A was set to GREEN
gene: PIK3C2A was marked as current diagnostic
Added comment: Three unrelated consanguineous families reported with bi-allelic LoF variants. Cataracts are part of the phenotype.
Sources: Literature
Cataract v0.9 Zornitza Stark Panel name changed from Cataract_VCGS to Cataract
Panel types changed to Victorian Clinical Genetics Services
Cataract v0.8 NUP188 Zornitza Stark Marked gene: NUP188 as ready
Cataract v0.8 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.8 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Cataract v0.7 NUP188 Zornitza Stark Publications for gene: NUP188 were set to
Cataract v0.6 NUP188 Zornitza Stark Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.5 NUP188 Zornitza Stark Classified gene: NUP188 as Amber List (moderate evidence)
Cataract v0.5 NUP188 Zornitza Stark Gene: nup188 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 NUP188 Zornitza Stark reviewed gene: NUP188: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1159/000504818, 28726809; Phenotypes: microcephaly, ID, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.4 PANK4 Zornitza Stark Marked gene: PANK4 as ready
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.4 PANK4 Zornitza Stark Classified gene: PANK4 as Amber List (moderate evidence)
Cataract v0.4 PANK4 Zornitza Stark Gene: pank4 has been classified as Amber List (Moderate Evidence).
Cataract v0.3 PANK4 Zornitza Stark gene: PANK4 was added
gene: PANK4 was added to Cataract_VCGS. Sources: Literature
Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PANK4 were set to 30585370
Phenotypes for gene: PANK4 were set to Congenital posterior cataract
Review for gene: PANK4 was set to AMBER
Added comment: Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Cataract v0.2 PISD Zornitza Stark Marked gene: PISD as ready
Cataract v0.2 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Cataract v0.2 PISD Zornitza Stark Publications for gene: PISD were set to
Cataract v0.1 PISD Zornitza Stark Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 PISD Zornitza Stark reviewed gene: PISD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31263216, 30858161; Phenotypes: Intellectual disability, cataracts, retinal degeneration, microcephaly, deafness, short stature, white matter abnormalities, no OMIM number yet.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZAP70 was set to Unknown
Cataract v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XIAP was set to Unknown
Cataract v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to Unknown
Cataract v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAS was set to Unknown
Cataract v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VSX2 was set to Unknown
Cataract v0.0 VIM Zornitza Stark gene: VIM was added
gene: VIM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VIM was set to Unknown
Cataract v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC37 was set to Unknown
Cataract v0.0 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to Unknown
Cataract v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDRD7 was set to Unknown
Cataract v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP2 was set to Unknown
Cataract v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRD5A3 was set to Unknown
Cataract v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC37A4 was set to Unknown
Cataract v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC33A1 was set to Unknown
Cataract v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A1 was set to Unknown
Cataract v0.0 SLC16A12 Zornitza Stark gene: SLC16A12 was added
gene: SLC16A12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC16A12 was set to Unknown
Cataract v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKIV2L was set to Unknown
Cataract v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIL1 was set to Unknown
Cataract v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SH2D1A was set to Unknown
Cataract v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SC5D was set to Unknown
Cataract v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to Unknown
Cataract v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAG2 was set to Unknown
Cataract v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Cataract v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Cataract v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB18 was set to Unknown
Cataract v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PXDN was set to Unknown
Cataract v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Cataract v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Cataract v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Cataract v0.0 PLCG2 Zornitza Stark gene: PLCG2 was added
gene: PLCG2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCG2 was set to Unknown
Cataract v0.0 PITX3 Zornitza Stark gene: PITX3 was added
gene: PITX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PITX3 was set to Unknown
Cataract v0.0 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PISD was set to Unknown
Cataract v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R1 was set to Unknown
Cataract v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Cataract v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Cataract v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Cataract v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Cataract v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX26 was set to Unknown
Cataract v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX2 was set to Unknown
Cataract v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Cataract v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX16 was set to Unknown
Cataract v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX14 was set to Unknown
Cataract v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX13 was set to Unknown
Cataract v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Cataract v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX11B was set to Unknown
Cataract v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX10 was set to Unknown
Cataract v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Cataract v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX6 was set to Unknown
Cataract v0.0 P3H2 Zornitza Stark gene: P3H2 was added
gene: P3H2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: P3H2 was set to Unknown
Cataract v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA3 was set to Unknown
Cataract v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown
Cataract v0.0 NUP188 Zornitza Stark gene: NUP188 was added
gene: NUP188 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUP188 was set to Unknown
Cataract v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHS was set to Unknown
Cataract v0.0 NF2 Zornitza Stark gene: NF2 was added
gene: NF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF2 was set to Unknown
Cataract v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDP was set to Unknown
Cataract v0.0 NCF4 Zornitza Stark gene: NCF4 was added
gene: NCF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF4 was set to Unknown
Cataract v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF2 was set to Unknown
Cataract v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NCF1 was set to Unknown
Cataract v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NACC1 was set to Unknown
Cataract v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH9 was set to Unknown
Cataract v0.0 MIR184 Zornitza Stark gene: MIR184 was added
gene: MIR184 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MIR184 was set to Unknown
Cataract v0.0 MIP Zornitza Stark gene: MIP was added
gene: MIP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MIP was set to Unknown
Cataract v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAN2B1 was set to Unknown
Cataract v0.0 MAF Zornitza Stark gene: MAF was added
gene: MAF was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAF was set to Unknown
Cataract v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRBA was set to Unknown
Cataract v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMX1B was set to Unknown
Cataract v0.0 LIM2 Zornitza Stark gene: LIM2 was added
gene: LIM2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIM2 was set to Unknown
Cataract v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIG4 was set to Unknown
Cataract v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Cataract v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JAM3 was set to Unknown
Cataract v0.0 ITPA Zornitza Stark gene: ITPA was added
gene: ITPA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITPA was set to Unknown
Cataract v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB2 was set to Unknown
Cataract v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INTS1 was set to Unknown
Cataract v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5K was set to Unknown
Cataract v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL2RG was set to Unknown
Cataract v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RB was set to Unknown
Cataract v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10RA was set to Unknown
Cataract v0.0 IL10 Zornitza Stark gene: IL10 was added
gene: IL10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL10 was set to Unknown
Cataract v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IKBKG was set to Unknown
Cataract v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ICOS was set to Unknown
Cataract v0.0 HSF4 Zornitza Stark gene: HSF4 was added
gene: HSF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSF4 was set to Unknown
Cataract v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to Unknown
Cataract v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Cataract v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Cataract v0.0 HMX1 Zornitza Stark gene: HMX1 was added
gene: HMX1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMX1 was set to Unknown
Cataract v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GUCY2C was set to Unknown
Cataract v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNPAT was set to Unknown
Cataract v0.0 GJA8 Zornitza Stark gene: GJA8 was added
gene: GJA8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA8 was set to Unknown
Cataract v0.0 GJA3 Zornitza Stark gene: GJA3 was added
gene: GJA3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA3 was set to Unknown
Cataract v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GJA1 was set to Unknown
Cataract v0.0 GCNT2 Zornitza Stark gene: GCNT2 was added
gene: GCNT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCNT2 was set to Unknown
Cataract v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALT was set to Unknown
Cataract v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALK1 was set to Unknown
Cataract v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FYCO1 was set to Unknown
Cataract v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FTL was set to Unknown
Cataract v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP3 was set to Unknown
Cataract v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXE3 was set to Unknown
Cataract v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Cataract v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Cataract v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN1 was set to Unknown
Cataract v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM126A was set to Unknown
Cataract v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC8 was set to Unknown
Cataract v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Cataract v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC3 was set to Unknown
Cataract v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC2 was set to Unknown
Cataract v0.0 EPHA2 Zornitza Stark gene: EPHA2 was added
gene: EPHA2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPHA2 was set to Unknown
Cataract v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPCAM was set to Unknown
Cataract v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOCK8 was set to Unknown
Cataract v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Cataract v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCLRE1C was set to Unknown
Cataract v0.0 CYP51A1 Zornitza Stark gene: CYP51A1 was added
gene: CYP51A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP51A1 was set to Unknown
Cataract v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27A1 was set to Unknown
Cataract v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBB was set to Unknown
Cataract v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYBA was set to Unknown
Cataract v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTDP1 was set to Unknown
Cataract v0.0 CRYGS Zornitza Stark gene: CRYGS was added
gene: CRYGS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYGS was set to Unknown
Cataract v0.0 CRYGD Zornitza Stark gene: CRYGD was added
gene: CRYGD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYGD was set to Unknown
Cataract v0.0 CRYGC Zornitza Stark gene: CRYGC was added
gene: CRYGC was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYGC was set to Unknown
Cataract v0.0 CRYBB3 Zornitza Stark gene: CRYBB3 was added
gene: CRYBB3 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYBB3 was set to Unknown
Cataract v0.0 CRYBB2 Zornitza Stark gene: CRYBB2 was added
gene: CRYBB2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYBB2 was set to Unknown
Cataract v0.0 CRYBB1 Zornitza Stark gene: CRYBB1 was added
gene: CRYBB1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYBB1 was set to Unknown
Cataract v0.0 CRYBA4 Zornitza Stark gene: CRYBA4 was added
gene: CRYBA4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYBA4 was set to Unknown
Cataract v0.0 CRYBA1 Zornitza Stark gene: CRYBA1 was added
gene: CRYBA1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYBA1 was set to Unknown
Cataract v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYAB was set to Unknown
Cataract v0.0 CRYAA Zornitza Stark gene: CRYAA was added
gene: CRYAA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYAA was set to Unknown
Cataract v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Cataract v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL2A1 was set to Unknown
Cataract v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL18A1 was set to Unknown
Cataract v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A1 was set to Unknown
Cataract v0.0 CHMP4B Zornitza Stark gene: CHMP4B was added
gene: CHMP4B was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHMP4B was set to Unknown
Cataract v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD40LG was set to Unknown
Cataract v0.0 CD3G Zornitza Stark gene: CD3G was added
gene: CD3G was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD3G was set to Unknown
Cataract v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BTK was set to Unknown
Cataract v0.0 BFSP2 Zornitza Stark gene: BFSP2 was added
gene: BFSP2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BFSP2 was set to Unknown
Cataract v0.0 BFSP1 Zornitza Stark gene: BFSP1 was added
gene: BFSP1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BFSP1 was set to Unknown
Cataract v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCOR was set to Unknown
Cataract v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GLCT was set to Unknown
Cataract v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH18A1 was set to Unknown
Cataract v0.0 AICDA Zornitza Stark gene: AICDA was added
gene: AICDA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AICDA was set to Unknown
Cataract v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGPS was set to Unknown
Cataract v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGK was set to Unknown
Cataract v0.0 ADAMTS10 Zornitza Stark gene: ADAMTS10 was added
gene: ADAMTS10 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAMTS10 was set to Unknown
Cataract v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAM17 was set to Unknown
Cataract v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA was set to Unknown
Cataract v0.0 Zornitza Stark Added panel Cataract_VCGS