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
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.
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
Basal cell nevus syndrome
Source NHS GMS was added to PTCH2.
Publications for PTCH2 were set to 18285427; 23479190; 3986729
31.05.2017 - panel revised after internal curation and clinical review.
PTCH2 was added to Hydrocephaluspanel. Source: Expert Review Amber
PTCH2 was added to Hydrocephaluspanel. Sources: Literature
PTCH2 was created by helen.brittain