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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.113 | PTCH1 | Chirag Patel Classified gene: PTCH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.113 | PTCH1 | Chirag Patel Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.112 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. 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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