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| Cataract v0.628 | ELP4 |
Bryony Thompson gene: ELP4 was added gene: ELP4 was added to Cataract. Sources: Expert Review Green,Literature Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP4 were set to 24290376; 17679951; 22991255; 26010655 Phenotypes for gene: ELP4 were set to ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246 Mode of pathogenicity for gene: ELP4 was set to Other |
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| 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. |
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| 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. |
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| Cataract v0.469 | PAX6 | Zornitza Stark Marked gene: PAX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.469 | PAX6 | Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.469 | PAX6 | Zornitza Stark Phenotypes for gene: PAX6 were changed from to PAX6-related ocular dysgenesis MONDO:0800183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.468 | PAX6 | Zornitza Stark Publications for gene: PAX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.467 | PAX6 | Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.466 | PAX6 | Zornitza Stark edited their review of gene: PAX6: Changed phenotypes: PAX6-related ocular dysgenesis MONDO:0800183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.466 | Zornitza Stark Added reviews for gene PAX6 from panel Anophthalmia_Microphthalmia_Coloboma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX6 was set to Unknown |
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