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Osteogenesis Imperfecta and Osteoporosis v0.114 P3H1 Zornitza Stark Publications for gene: P3H1 were set to 17277775; 18566967
Osteogenesis Imperfecta and Osteoporosis v0.113 P3H1 Zornitza Stark Tag founder tag was added to gene: P3H1.
Osteogenesis Imperfecta and Osteoporosis v0.113 P3H1 Tashunka Taylor-Miller reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36833249; Phenotypes: Osteopenia HP:0000938, Platyspondyly HP:0000926, MONDO:0012581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.113 ALPL Zornitza Stark Marked gene: ALPL as ready
Osteogenesis Imperfecta and Osteoporosis v0.113 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.113 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Osteogenesis Imperfecta and Osteoporosis v0.112 ALPL Zornitza Stark Publications for gene: ALPL were set to
Osteogenesis Imperfecta and Osteoporosis v0.111 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.110 ALPL Chirag Patel reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19500388, 23688511; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Marked gene: KIF5B as ready
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Gene: kif5b has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Classified gene: KIF5B as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Gene: kif5b has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Classified gene: KIF5B as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.110 KIF5B Seb Lunke Gene: kif5b has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.109 KIF5B Seb Lunke gene: KIF5B was added
gene: KIF5B was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 37934770
Phenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019
Review for gene: KIF5B was set to GREEN
gene: KIF5B was marked as current diagnostic
Added comment: Four additional patients with three distinct de-novo missense variants and features consistent with osteogenesis imperfecta. All variants are in the Kinesin motor domain (~50% of the protein). Functional data in C. Elegans and cell lines shows impaired protein function. Not clear what distinguishes OI causing variants from other phenotypes for this gene at this stage. Dominant negative effect proposed but not conclusively proven.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.108 PHLDB1 Zornitza Stark Phenotypes for gene: PHLDB1 were changed from osteogenesis imperfecta, MONDO:0019019 to Osteogenesis imperfecta, type XXIII, MIM# 620639
Osteogenesis Imperfecta and Osteoporosis v0.107 PHLDB1 Zornitza Stark reviewed gene: PHLDB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XXIII, MIM# 620639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.107 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to 26365339
Osteogenesis Imperfecta and Osteoporosis v0.106 TAPT1 Paul De Fazio reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: None; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.106 Bryony Thompson Panel name changed from Osteogenesis Imperfecta to Osteogenesis Imperfecta and Osteoporosis
Osteogenesis Imperfecta and Osteoporosis v0.105 TRPV6 Zornitza Stark Marked gene: TRPV6 as ready
Osteogenesis Imperfecta and Osteoporosis v0.105 TRPV6 Zornitza Stark Gene: trpv6 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.105 TRPV6 Zornitza Stark Phenotypes for gene: TRPV6 were changed from to Hyperparathyroidism, transient neonatal, MIM# 618188
Osteogenesis Imperfecta and Osteoporosis v0.104 TRPV6 Zornitza Stark Publications for gene: TRPV6 were set to
Osteogenesis Imperfecta and Osteoporosis v0.103 TRPV6 Zornitza Stark Mode of inheritance for gene: TRPV6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.102 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.102 TMEM38B Zornitza Stark Marked gene: TMEM38B as ready
Osteogenesis Imperfecta and Osteoporosis v0.102 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.102 TMEM38B Zornitza Stark Phenotypes for gene: TMEM38B were changed from to Osteogenesis imperfecta, type XIV , MIM#615066
Osteogenesis Imperfecta and Osteoporosis v0.101 TMEM38B Zornitza Stark Publications for gene: TMEM38B were set to
Osteogenesis Imperfecta and Osteoporosis v0.100 TMEM38B Zornitza Stark Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.99 TMEM38B Zornitza Stark reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23054245, 28323974; Phenotypes: Osteogenesis imperfecta, type XIV , MIM#615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.99 SPARC Zornitza Stark Marked gene: SPARC as ready
Osteogenesis Imperfecta and Osteoporosis v0.99 SPARC Zornitza Stark Gene: sparc has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.99 SPARC Zornitza Stark Phenotypes for gene: SPARC were changed from to Osteogenesis imperfecta, type XVII, MIM# 616507
Osteogenesis Imperfecta and Osteoporosis v0.98 SPARC Zornitza Stark Publications for gene: SPARC were set to
Osteogenesis Imperfecta and Osteoporosis v0.97 SPARC Zornitza Stark Mode of inheritance for gene: SPARC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.96 SPARC Zornitza Stark edited their review of gene: SPARC: Changed rating: GREEN
Osteogenesis Imperfecta and Osteoporosis v0.96 SPARC Zornitza Stark reviewed gene: SPARC: Rating: ; Mode of pathogenicity: None; Publications: 26027498, 34462290; Phenotypes: Osteogenesis imperfecta, type XVII, MIM# 616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.96 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.96 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.96 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from to Osteogenesis imperfecta, type VI, MIM# 613982
Osteogenesis Imperfecta and Osteoporosis v0.95 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.94 SERPINF1 Zornitza Stark Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.93 SERPINF1 Zornitza Stark reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28689307; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.93 PLOD2 Zornitza Stark Marked gene: PLOD2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.93 PLOD2 Zornitza Stark Gene: plod2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.93 PLOD2 Zornitza Stark Phenotypes for gene: PLOD2 were changed from to Bruck syndrome 2, MIM# 609220
Osteogenesis Imperfecta and Osteoporosis v0.92 PLOD2 Zornitza Stark Publications for gene: PLOD2 were set to
Osteogenesis Imperfecta and Osteoporosis v0.91 PLOD2 Zornitza Stark Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.90 PLOD2 Zornitza Stark reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12881513, 15523624, 22689593; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.90 P4HB Zornitza Stark changed review comment from: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype.; to: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Bone fragility is part of the phenotype.
Osteogenesis Imperfecta and Osteoporosis v0.90 WNT11 Zornitza Stark Marked gene: WNT11 as ready
Osteogenesis Imperfecta and Osteoporosis v0.90 WNT11 Zornitza Stark Gene: wnt11 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.90 WNT11 Zornitza Stark Classified gene: WNT11 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.90 WNT11 Zornitza Stark Gene: wnt11 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.89 WNT11 Zornitza Stark gene: WNT11 was added
gene: WNT11 was added to Osteogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: WNT11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNT11 were set to 34875064
Phenotypes for gene: WNT11 were set to Osteoporosis, MONDO:0005298, WNT11-related
Review for gene: WNT11 was set to GREEN
Added comment: This gene has been implicated in early-onset osteoporosis from three unrelated cases and was supported by evidence from functional studies. All three patients harboured heterozygous variants in WNT11 gene.

Three unrelated cases are reported in PMID: 34875064. A four year-old boy harbouring de novo heterozygous loss-of-function variant c.677_678dupGG (p.Leu227Glyfs*22) was reported with low BMD, osteopenia and several fractures.

A 51 year-old woman and her 69 year-old mother were identified with a heterozygous missense variant c.217G>A (p.Ala73Thr). The woman was reported with bone fragility, several fractures, osteoarthritis and osteoporosis, while her mother also had several osteoporotic fractures.

A 61 year-old woman that was reported with lumbar spine osteoarthritis had several fractures since 55 years of age was identified with a heterozygous missense variant c.865G>A (p.Val289Met).

This was also supported by results from functional studies, where cell lines with the loss-of-function variant generated by CRISPR-Cas9 showed reduced cell proliferation and osteoblast differentiation in comparison to wild-type. The expression of genes in the Wnt canonical and non-canonical pathways was inhibited in these mutant cells.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.88 PHLDB1 Seb Lunke Marked gene: PHLDB1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.88 PHLDB1 Seb Lunke Gene: phldb1 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.88 PHLDB1 Seb Lunke Classified gene: PHLDB1 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.88 PHLDB1 Seb Lunke Gene: phldb1 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.87 PHLDB1 Seb Lunke gene: PHLDB1 was added
gene: PHLDB1 was added to Osteogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHLDB1 were set to 36543534
Review for gene: PHLDB1 was set to AMBER
Added comment: 5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment.

Two independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.87 PHLDB1 Seb Lunke gene: PHLDB1 was added
gene: PHLDB1 was added to Osteogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHLDB1 were set to 36543534
Phenotypes for gene: PHLDB1 were set to osteogenesis imperfecta, MONDO:0019019
Review for gene: PHLDB1 was set to AMBER
Added comment: 5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment.

Two independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.86 Zornitza Stark HPO terms changed from to Increased susceptibility to fractures, HP:0002659
List of related panels changed from to Increased susceptibility to fractures; HP:0002659
Osteogenesis Imperfecta and Osteoporosis v0.85 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Osteogenesis Imperfecta and Osteoporosis v0.85 COPB2 Zornitza Stark Phenotypes for gene: COPB2 were changed from Osteoporosis, recurrent fractures and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Osteogenesis Imperfecta and Osteoporosis v0.84 COPB2 Zornitza Stark edited their review of gene: COPB2: Changed phenotypes: Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV, MIM# 615220
Osteogenesis Imperfecta and Osteoporosis v0.83 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.82 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.81 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23499309, 23499310, 23656646, 26671912; Phenotypes: Osteogenesis imperfecta, type XV, MIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Marked gene: SP7 as ready
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Gene: sp7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Osteogenesis Imperfecta and Osteoporosis v0.80 SP7 Zornitza Stark Publications for gene: SP7 were set to
Osteogenesis Imperfecta and Osteoporosis v0.79 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.78 SP7 Zornitza Stark reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.78 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) to Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.76 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Osteogenesis Imperfecta and Osteoporosis v0.75 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.74 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Marked gene: CCDC134 as ready
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.74 CCDC134 Zornitza Stark Phenotypes for gene: CCDC134 were changed from to Osteogenesis imperfecta, type XXII, MIM#619795
Osteogenesis Imperfecta and Osteoporosis v0.73 CCDC134 Zornitza Stark Classified gene: CCDC134 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.73 CCDC134 Zornitza Stark Gene: ccdc134 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.72 CCDC134 Zornitza Stark edited their review of gene: CCDC134: Changed phenotypes: Osteogenesis imperfecta, type XXII, MIM#619795
Osteogenesis Imperfecta and Osteoporosis v0.72 CCDC134 Zornitza Stark gene: CCDC134 was added
gene: CCDC134 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC134 were set to 32181939; 34204301; 35019224
Review for gene: CCDC134 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Marked gene: PPIB as ready
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.71 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from to Osteogenesis imperfecta, type IX, MIM# 259440
Osteogenesis Imperfecta and Osteoporosis v0.70 PPIB Zornitza Stark Publications for gene: PPIB were set to
Osteogenesis Imperfecta and Osteoporosis v0.69 PPIB Zornitza Stark Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.68 PPIB Zornitza Stark reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.68 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Osteogenesis Imperfecta and Osteoporosis v0.67 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.66 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.65 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.65 COPB2 Zornitza Stark Marked gene: COPB2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.65 COPB2 Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.65 COPB2 Zornitza Stark Classified gene: COPB2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.65 COPB2 Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.64 COPB2 Zornitza Stark gene: COPB2 was added
gene: COPB2 was added to Osteogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031
Phenotypes for gene: COPB2 were set to Osteoporosis, recurrent fractures and developmental delay
Review for gene: COPB2 was set to GREEN
Added comment: Loss-of-function variants in COPB2, a component of the COPI coatomer complex, in six individuals from five unrelated families. 4 are heterozygous and one family with two sibs with homozygous variant, previously reported.
All presenting with a clinical spectrum of osteoporosis or osteopaenia, many with recurrent fractures, and developmental delay of variable severity. Functional data.
Sources: Literature
Osteogenesis Imperfecta and Osteoporosis v0.63 SUCO Bryony Thompson Marked gene: SUCO as ready
Osteogenesis Imperfecta and Osteoporosis v0.63 SUCO Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.63 SUCO Bryony Thompson Classified gene: SUCO as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.63 SUCO Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.62 SUCO Bryony Thompson gene: SUCO was added
gene: SUCO was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCO were set to 29620724; 20440000
Phenotypes for gene: SUCO were set to Osteogenesis imperfecta
Review for gene: SUCO was set to AMBER
Added comment: A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.61 ANO5 Bryony Thompson Classified gene: ANO5 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.61 ANO5 Bryony Thompson Gene: ano5 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.60 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO5 were set to 30712070; 15124103; 30641283; 29175271
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260
Review for gene: ANO5 was set to GREEN
gene: ANO5 was marked as current diagnostic
Added comment: Bone fragility is a feature of the condition, which is an overlapping feature with OI and could be a differential diagnosis. >3 families/probands and a null mouse model reported.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.59 XYLT2 Bryony Thompson Marked gene: XYLT2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.59 XYLT2 Bryony Thompson Gene: xylt2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.59 XYLT2 Bryony Thompson Classified gene: XYLT2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.59 XYLT2 Bryony Thompson Gene: xylt2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.58 XYLT2 Bryony Thompson gene: XYLT2 was added
gene: XYLT2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496; 26987875
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822
Review for gene: XYLT2 was set to GREEN
gene: XYLT2 was marked as current diagnostic
Added comment: Generalised osteoporosis and recurrent fractures are a feature of the condition, which overlaps with the OI phenotype. >3 families reported.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.57 WNT4 Bryony Thompson gene: WNT4 was added
gene: WNT4 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: WNT4 was set to Unknown
Publications for gene: WNT4 were set to 25108526; 26733379
Phenotypes for gene: WNT4 were set to Osteoporosis
Review for gene: WNT4 was set to RED
Added comment: Mouse model where recombinant Wnt4 alleviated bone loss and inflammation by inhibiting NF-κB in vivo in mouse models of bone disease. However, no reported association with Mendelian disease. A common SNP (rs10917157) has been associated with bone mineral density.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.56 UNC45A Zornitza Stark Phenotypes for gene: UNC45A were changed from cholestasis; congenital diarrhea; impaired hearing; bone fragility to Osteootohepatoenteric syndrome, MIM# 619377; cholestasis; congenital diarrhea; impaired hearing; bone fragility
Osteogenesis Imperfecta and Osteoporosis v0.55 UNC45A Zornitza Stark reviewed gene: UNC45A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteootohepatoenteric syndrome, MIM# 619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Alison Yeung Marked gene: SERPINH1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Alison Yeung Gene: serpinh1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.55 SERPINH1 Dean Phelan reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33524049; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.55 KDELR2 Zornitza Stark Phenotypes for gene: KDELR2 were changed from Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms to Osteogenesis imperfecta 21, MIM# 619131; Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Osteogenesis Imperfecta and Osteoporosis v0.54 KDELR2 Zornitza Stark edited their review of gene: KDELR2: Changed phenotypes: Osteogenesis imperfecta 21, MIM# 619131, Increased susceptibility to fractures, joint hypermobility, Scoliosis, Bowing of the legs, Bowing of the arms
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.54 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.53 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Osteogenesis Imperfecta and Osteoporosis v0.52 B3GALT6 Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.51 B3GALT6 Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 23664118; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.51 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Osteogenesis Imperfecta and Osteoporosis v0.50 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Osteogenesis Imperfecta and Osteoporosis v0.49 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.48 CRTAP Paul De Fazio reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.48 KDELR2 Zornitza Stark Marked gene: KDELR2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.48 KDELR2 Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.48 KDELR2 Zornitza Stark Classified gene: KDELR2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.48 KDELR2 Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.47 KDELR2 Zornitza Stark gene: KDELR2 was added
gene: KDELR2 was added to Osteogenesis Imperfecta. Sources: Expert Review
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; joint hypermobility; Scoliosis; Bowing of the legs; Bowing of the arms
Review for gene: KDELR2 was set to GREEN
Added comment: 4 families with osteogenesis imperfecta reported with functional studies.
Sources: Expert Review
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Marked gene: SEC24D as ready
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Gene: sec24d has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.46 SEC24D Zornitza Stark Phenotypes for gene: SEC24D were changed from to Cole-Carpenter syndrome 2, MIM# 616294
Osteogenesis Imperfecta and Osteoporosis v0.45 SEC24D Zornitza Stark Publications for gene: SEC24D were set to
Osteogenesis Imperfecta and Osteoporosis v0.44 SEC24D Zornitza Stark Mode of inheritance for gene: SEC24D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.43 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156, 25683121; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Marked gene: P4HB as ready
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Gene: p4hb has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.43 P4HB Zornitza Stark Phenotypes for gene: P4HB were changed from to Cole-Carpenter syndrome 1, MIM#112240
Osteogenesis Imperfecta and Osteoporosis v0.42 P4HB Zornitza Stark Publications for gene: P4HB were set to
Osteogenesis Imperfecta and Osteoporosis v0.41 P4HB Zornitza Stark Mode of inheritance for gene: P4HB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.40 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.37 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.36 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 27380894
Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM# 301014
Review for gene: MBTPS2 was set to AMBER
Added comment: Two unrelated families reported with multiple male affected individuals.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.35 FAM46A Zornitza Stark Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII, MIM# 617952
Osteogenesis Imperfecta and Osteoporosis v0.34 FAM46A Zornitza Stark Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Marked gene: FAM46A as ready
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: TENT5A
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.33 FAM46A Zornitza Stark Tag new gene name tag was added to gene: FAM46A.
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Marked gene: GORAB as ready
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Classified gene: GORAB as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.33 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.32 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070
Review for gene: GORAB was set to GREEN
Added comment: Osteopaenia and recurrent fractures are a feature of this condition.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Marked gene: CASR as ready
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Classified gene: CASR as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.31 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.30 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CASR were set to 22620673
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures
Review for gene: CASR was set to GREEN
Added comment: Severe neonatal presentations can be with multiple fractures.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.29 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.28 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 26940150
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Review for gene: B4GALT7 was set to GREEN
Added comment: Osteopaenia is a key feature of this connective tissue disorder.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Marked gene: NBAS as ready
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.27 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Marked gene: SGMS2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Classified gene: SGMS2 as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.26 SGMS2 Bryony Thompson Gene: sgms2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.25 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Osteogenesis Imperfecta. Sources: Expert list
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 30779713; 32028018
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Review for gene: SGMS2 was set to GREEN
Added comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments.
2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum.
Sources: Expert list
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Marked gene: UNC45A as ready
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Gene: unc45a has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.24 UNC45A Bryony Thompson Phenotypes for gene: UNC45A were changed from to cholestasis; congenital diarrhea; impaired hearing; bone fragility
Osteogenesis Imperfecta and Osteoporosis v0.23 UNC45A Bryony Thompson Publications for gene: UNC45A were set to
Osteogenesis Imperfecta and Osteoporosis v0.22 UNC45A Bryony Thompson Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.21 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.21 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.21 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from to Osteogenesis imperfecta, type VIII, (MIM# 610915)
Osteogenesis Imperfecta and Osteoporosis v0.20 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.19 P3H1 Zornitza Stark Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.18 P3H1 Ain Roesley reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, (MIM# 610915); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.18 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Osteogenesis Imperfecta and Osteoporosis v0.18 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.18 IFITM5 Zornitza Stark Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta type V, MIM#610967
Osteogenesis Imperfecta and Osteoporosis v0.17 IFITM5 Zornitza Stark Publications for gene: IFITM5 were set to
Osteogenesis Imperfecta and Osteoporosis v0.16 IFITM5 Zornitza Stark Mode of pathogenicity for gene: IFITM5 was changed from to Other
Osteogenesis Imperfecta and Osteoporosis v0.15 IFITM5 Zornitza Stark Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.14 IFITM5 Chern Lim reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta type V, MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.14 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Osteogenesis Imperfecta and Osteoporosis v0.13 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.12 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.12 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.11 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.11 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.10 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Osteogenesis Imperfecta and Osteoporosis v0.9 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.8 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.7 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.7 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Osteogenesis Imperfecta and Osteoporosis v0.6 NBAS Bryony Thompson Classified gene: NBAS as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.6 NBAS Bryony Thompson Gene: nbas has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.5 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Osteogenesis Imperfecta. Sources: NHS GMS
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 27789416; 29955634
Phenotypes for gene: NBAS were set to short stature; bone fragility; developmental delay; immunodeficiency; autism
Review for gene: NBAS was set to GREEN
Added comment: Three compound heterozygous cases with an OI multi-system phenotype.
Sources: NHS GMS
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Classified gene: UNC45A as Amber List (moderate evidence)
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Added comment: Comment on list classification: Not enough evidence currently to determine bone fragility is a prominent feature of the condition.
Osteogenesis Imperfecta and Osteoporosis v0.4 UNC45A Bryony Thompson Gene: unc45a has been classified as Amber List (Moderate Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.3 UNC45A Bryony Thompson reviewed gene: UNC45A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: cholestasis, congenital diarrhea, impaired hearing, bone fragility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.3 Zornitza Stark Panel name changed from Osteogenesis imperfecta_VCGS to Osteogenesis Imperfecta
Panel types changed to Victorian Clinical Genetics Services
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Marked gene: MESD as ready
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.1 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Osteogenesis imperfecta_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Osteogenesis Imperfecta and Osteoporosis v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC45A was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV6 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM38B was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 FAM46A Zornitza Stark gene: FAM46A was added
gene: FAM46A was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM46A was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 TAPT1 Zornitza Stark gene: TAPT1 was added
gene: TAPT1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAPT1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPARC was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SP7 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINH1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINF1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC24D was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPIB was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLS3 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLOD2 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 P4HB Zornitza Stark gene: P4HB was added
gene: P4HB was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: P4HB was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: P3H1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH2 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP5 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFITM5 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKBP10 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRTAP was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CREB3L1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A2 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP1 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALT6 was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPL was set to Unknown
Osteogenesis Imperfecta and Osteoporosis v0.0 Zornitza Stark Added panel Osteogenesis imperfecta_VCGS