Hydrocephalus

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

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Causation is clear. Approx 50% have macrocephaly. Hydrocephalus is also reported in some.
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Basal cell nevus syndrome

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTCH1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH1 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

PTCH1 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

PTCH1 was created by helen.brittain