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Cataract v0.629 MIR204 Zornitza Stark gene: MIR204 was added
gene: MIR204 was added to Cataract. Sources: Expert Review Green,Literature
non-coding gene tags were added to gene: MIR204.
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975; 38867642; 20713703; 31332443
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Cataract v0.623 VCAN Zornitza Stark gene: VCAN was added
gene: VCAN was added to Cataract. Sources: Literature
Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VCAN were set to 36333947; 29071374
Phenotypes for gene: VCAN were set to Wagner syndrome 1, MIM# 143200
Review for gene: VCAN was set to AMBER
Added comment: PMID 29071374 reports 28 individuals from 1 family with heterozygous splice‑acceptor c.4004-1G>A variant presenting with Wagner syndrome (vitreoretinopathy, cataract, retinal detachment). PMID 36333947 reports 4 individuals from 1 family with heterozygous splice‑site indel c.4004-4_c.4004-3delinsCA variant presenting with Wagner vitreoretinopathy (cataract, vitreous syneresis, retinal detachment).
Sources: Literature
Cataract v0.619 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Cataract. Sources: Literature
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIX6 were set to 35693420
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550
Review for gene: SIX6 was set to AMBER
Added comment: PMID 35693420 reports four individuals from two unrelated consanguineous families with biallelic SIX6 variants (c.547G>C p.Asp183His missense; c.-227_572+235del1034 exon‑1 deletion) presenting with congenital cataract, microcornea, corneal opacification and variable iris coloboma or microphthalmia. The variants segregate with disease, are absent from population databases, and in silico structural modelling predicts loss‑of‑function.
Sources: Literature
Cataract v0.617 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Cataract. Sources: Literature
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFRP were set to 36605040
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040
Review for gene: MFRP was set to AMBER
Added comment: PMID 36605040 reports 2 individuals from 2 unrelated families with biallelic canonical splice-site MFRP variants presenting with nanophthalmos, high hyperopia, retinitis pigmentosa, and early-onset cataract (nuclear sclerotic).
Sources: Literature
Cataract v0.609 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Cataract. Sources: Literature
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 38840272; 31481716
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Review for gene: CWC27 was set to AMBER
Added comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism).
Sources: Literature
Cataract v0.602 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Cataract. Sources: Literature
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13B were set to 40813981; 37901634; 32915983
Phenotypes for gene: VPS13B were set to Cohen syndrome, MIM# 216550
Review for gene: VPS13B was set to GREEN
Added comment: PMID 32915983 reports two adult siblings with Cohen syndrome and bilateral nuclear‑sclerotic cataracts; PMID 37901634 reports a 39‑year‑old male with Cohen syndrome, early adult‑onset cataract and two novel VPS13B variants (c.5138T>C missense, c.10179del frameshift); PMID 40813981 reports a 24‑year‑old male with Cohen syndrome, bilateral cataract, spherical lenses, lens subluxation and retinitis pigmentosa carrying a homozygous splice‑site VPS13B variant (c.6865+1G>T). Functional mouse knockout models (Vps13bΔEx3/ΔEx3) develop early‑onset hypermature cataracts, supporting a causal link.
Sources: Literature
Cataract v0.598 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 36937953; 34864912; 27389523
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Review for gene: TRNT1 was set to GREEN
Added comment: PMID 27389523 reports three affected siblings from one family with childhood cataract, inner retinal dysfunction, immunodeficiency and a homozygous missense TRNT1 p.Arg99Trp variant. PMID 34864912 describes a 49‑year‑old male with congenital cataract, recurrent infections, B‑cell immunodeficiency, periodic fevers and hypergonadotropic hypogonadism carrying the same homozygous p.Arg99Trp variant. PMID 36937953 presents three unrelated patients from two families with sideroblastic anemia, B‑cell immunodeficiency, periodic fevers, developmental delay and bilateral cataracts caused by compound heterozygous TRNT1 variants (c.1246A>G/p.K416E, c.1056+1G>A, c.574C>T/p.Q192*, c.464T>C/p.I155T). Across the three papers there are seven patients from four unrelated families with biallelic loss‑of‑function TRNT1 variants and a consistent phenotype that includes cataract.
Sources: Literature
Cataract v0.594 TOR1AIP1 Zornitza Stark gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Cataract. Sources: Literature
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 32055997; 30723199
Phenotypes for gene: TOR1AIP1 were set to Syndromic disease, MONDO:0002254, TOR1AIP1-related
Review for gene: TOR1AIP1 was set to GREEN
Added comment: PMID 30723199 reports 7 individuals from 5 unrelated families with biallelic nonsense TOR1AIP1 (c.961C>T) variants presenting with congenital bilateral cataract, severe neurodevelopmental impairment, intra‑uterine growth retardation, microcephaly, sensorineural deafness and cardiac defects. PMID 32055997 adds 2 unrelated individuals from 2 families carrying compound‑heterozygous loss‑of‑function TOR1AIP1 variants (frameshift + missense or nonsense + frameshift) with a closely overlapping multisystemic phenotype that also includes cataract, hearing loss, cardiac disease and muscular atrophy.

Note gene has been associated with multiple phenotypes, predominantly muscle-related; described as 'envelopathy' in some papers.
Sources: Literature
Cataract v0.534 LARGE1 Lucy Spencer Phenotypes for gene: LARGE1 were changed from 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) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840
Cataract v0.528 RET Zornitza Stark Marked gene: RET as ready
Cataract v0.528 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.528 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.518 CDK9 Zornitza Stark gene: CDK9 was added
gene: CDK9 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546
Phenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.; to: Variants in PAX6 cause a range of eye phenotypes, which have been lumped by ClinGen. DEFINITIVE gene-disease association.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Multiple families reported with coloboma.; to: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.374 SRD5A3 Rachel Wong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34925443; Phenotypes: nystagmus, retinal dystrophy, autism, anxiety, ataxia, learning difficulties; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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