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
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:26 p.m.
Several families reported. Hydrocephalus common amongst other significant brain malformations
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Source NHS GMS was added to ISPD.
Tag new-gene-name tag was added to gene: ISPD.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
ISPD was added to Hydrocephaluspanel. Source: Expert Review Green
ISPD was added to Hydrocephaluspanel. Sources: Literature
ISPD was created by helen.brittain