Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: PTCH1

Amber List (moderate evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 20 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

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
Created: 25 Jul 2023, 1:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bladder exstrophy and epispadias complex (BEEC)

History Filter Activity

25 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ptch1 has been classified as Amber List (Moderate Evidence).

25 Jul 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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