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Structural eye disease

Gene: PTCH1

Green List (high evidence)

PTCH1 (patched 1)
EnsemblGeneIds (GRCh38): ENSG00000185920
EnsemblGeneIds (GRCh37): ENSG00000185920
OMIM: 601309, Gene2Phenotype
PTCH1 is in 21 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

FC - PMID: 16024850 reported a de novo mutation in a patient with Gorlin syndrome and eye anomalies. We also have an unpublished case with a similar phenotype, with a de novo splice site mutation. Incomplete penetrance for the cases reported by Chassaing et al. 2016, but zebrafish models supported its involvement in microphthalmia (PMID: 28496998)
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 7 (can include microphthalmia); 610828

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - PMID: 16024850 reported a de novo mutation in a patient with Gorlin syndrome and eye anomalies. We also have an unpublished case with a similar phenotype, with a de novo splice site mutation. Incomplete penetrance for the cases reported by Chassaing et al. 2016, but zebrafish models supported its involvement in microphthalmia (PMID: 28496998)
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 7 (can include microphthalmia); 610828

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

18 Apr 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998

18 Apr 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (can include microphthalmia), 610828 to Holoprosencephaly 7 (can include microphthalmia), 610828; Corneal opacification and other ocular anomalies, 269400

18 Apr 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PTCH1 were set to 17001668; 16024850

17 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PTCH1 was added gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 17001668; 16024850 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828