Retinal disordersGene: DHX38
A number of cases now
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Comment on list classification: Promoted from red to amber. DHX38 is associated with a phenotype in OMIM but not Gene2Phenotype. PMID: 24737827 reports 4 affected siblings from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma who have homozygous c.995G>A variant (G332). No functional studies were performed. PMID: 30208423 reports 2 different consanguineous Pakistani family who have members affected by early-onset retinitis pigmentosa. The authors found that the affected members had homozygous c.971G>A variants (R324Q). No functional studies were performed. Based on this evidence, it was decided that the gene should be promoted to an amber rating.
Created: 2 Apr 2019, 1:56 p.m.
Source NHS GMS was added to DHX38.
Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Publications for gene: DHX38 were set to
Mode of inheritance for gene: DHX38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHX38 were changed from No OMIM disease ID to Retinitis pigmentosa 84, 618220
DHX38 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
DHX38 was created by ellenmcdonagh