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Fetal anomalies

Gene: PTCH1

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

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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.
Created: 25 Jul 2023, 1:57 a.m. | Last Modified: 25 Jul 2023, 1:57 a.m.
Panel Version: 1.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bladder exstrophy and epispadias complex (BEEC)

Created: 25 Jul 2023, 1:57 a.m.
Last Modified: 25 Jul 2023, 1:57 a.m.
Panel version: 1.123

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Note variants in this gene also cause basal cell naevus syndrome.
Created: 24 Apr 2021, 8:14 a.m. | Last Modified: 24 Apr 2021, 8:14 a.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 7, MIM# 610828

Publications

Created: 24 Apr 2021, 8:14 a.m.
Last Modified: 24 Apr 2021, 8:14 a.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 0.69

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ptch1 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: PTCH1 were set to

1 Mar 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, MIM# 610828

1 Mar 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTCH1 was added gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME