Hydrocephalus

Gene: PTCH2

Amber List (moderate evidence)

PTCH2 (patched 2)
EnsemblGeneIds (GRCh38): ENSG00000117425
EnsemblGeneIds (GRCh37): ENSG00000117425
OMIM: 603673, Gene2Phenotype
PTCH2 is in 3 panels

3 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 only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Eleanor Williams (Genomics England Curator)

Comment on publications: Added PMID:3986729 (Lycka and Chichak, 1985) which describes hydrocephaly being a feature of Basal cell nevus syndrome.
Created: 15 May 2018, 12:16 p.m.

Helen Brittain (Genomics England Curator)

I don't know

Only two germline cases reported to date. Other somatic mutations identified in BCC and medulloblastoma. Watchlist at present.
Created: 9 May 2017, 1:23 p.m.

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

Phenotypes
Basal cell nevus syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Basal cell nevus syndrome
Tags
watchlist
OMIM
603673
Clinvar variants
Variants in PTCH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTCH2.

15 May 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for PTCH2 were set to 18285427; 23479190; 3986729

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTCH2 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

PTCH2 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

PTCH2 was created by helen.brittain