Retinal disordersGene: TIMM8A
TIMM8A 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, 4:18 p.m. | Last Modified: 7 Oct 2019, 4:18 p.m.
Panel Version: 1.184
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mohr-Tranebjaerg syndrome, 304700
syndromic deafness plus eye phenotype
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Phenotypes for gene: TIMM8A were changed from Eye Disorders to Eye Disorders; Mohr-Tranebjaerg syndrome, 304700
Mode of inheritance for gene: TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: timm8a has been classified as Green List (High Evidence).
Source NHS GMS was added to TIMM8A.
TIMM8A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
TIMM8A was created by ellenmcdonagh