Retinal disordersGene: PPT1
PPT1 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.
Created: 7 Oct 2019, 4:15 p.m. | Last Modified: 7 Oct 2019, 4:15 p.m.
Panel Version: 1.181
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ceroid lipofuscinosis, neuronal, 1, 256730
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Phenotypes for gene: PPT1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 1, 256730
Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ppt1 has been classified as Green List (High Evidence).
Source NHS GMS was added to PPT1.
PPT1 was created by ellenmcdonagh
PPT1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red