Retinal disordersGene: DTHD1
only one report
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Abu Safieh et al 2013: Identified rare novel homozygous substitution affecting start of translation in multiplex Saudi LCA family. This has not been replicated to our knowledge - insufficient evidence to be included in panel
Created: 1 Jun 2016, 10:04 a.m.
Mode of inheritance
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to DTHD1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
DTHD1 was created by ellenmcdonagh
DTHD1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green