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
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
Basal cell nevus syndrome
Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Source NHS GMS was added to PTCH1.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
PTCH1 was added to Hydrocephaluspanel. Source: Expert Review Green
PTCH1 was added to Hydrocephaluspanel. Sources: Literature
PTCH1 was created by helen.brittain