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Cataract v0.324 P3H2 Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Cataract v0.319 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 v0.286 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 v0.262 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 v0.260 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 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 v0.237 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 v0.235 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 v0.201 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 v0.189 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract
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 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 v0.169 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 v0.164 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 v0.139 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 v0.124 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 v0.121 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 v0.120 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 v0.118 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 v0.64 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 v0.60 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 v0.37 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 v0.33 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 v0.0 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 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