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| Differences of Sex Development v1.17 | PTCH1 | Zornitza Stark Phenotypes for gene: PTCH1 were changed from Bladder exstrophy and epispadias complex (BEEC) to Exstrophy-epispadias complex MONDO:0017919, PTCH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.16 | PTCH1 | Zornitza Stark reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Exstrophy-epispadias complex MONDO:0017919, PTCH1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Classified gene: PTCH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.276 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Differences of Sex Development. Sources: Other Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC) Review for gene: PTCH1 was set to AMBER Added comment: ESHG 2023: 9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome. Zebrafish models: a) knock out and knock in (1 missense variant) models showed no phenotype b) co-injection of WT and missense variant led to altered cloaca on D5. Proposed mechanism is dominant negative effect. Sources: Other |
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| Differences of Sex Development v0.276 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Differences of Sex Development. Sources: Other Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC) Review for gene: PTCH1 was set to AMBER Added comment: ESHG 2023: 9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome. Zebrafish models: a) knock out and knock in (1 missense variant) models showed no phenotype b) co-injection of WT and missense variant led to altered cloaca on D5. Proposed mechanism is dominant negative effect. Sources: Other |
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