Retinal disorders

Gene: DHX38

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Mar 2026, 1:02 p.m. | Last Modified: 11 Mar 2026, 1:02 p.m.

Panel Version: 8.97

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - three different homozygous variants identified in four families with retinitis pigmentosa and a zebrafish knockout model supporting a role in retinal development (PMID: 24737827; 30208423; 35719279; 37867960)

Created: 15 Oct 2025, 2:13 p.m. | Last Modified: 15 Oct 2025, 2:13 p.m.

Panel Version: 8.52

- PMID: 35719279 (2022) - another consanguineous family from Saudi Arabia with two sisters presented affected by retinitis pigmentosa since childhood. Whole exome sequencing identified a missense homozygous variant (c.2571C>T, p.(Ala857=)) in the DHX38 gene which segregated with the phenotype. No functional studies performed.

Created: 15 Oct 2025, 2:08 p.m. | Last Modified: 15 Oct 2025, 2:08 p.m.

Panel Version: 8.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 84, OMIM:618220

Publications

• 24737827
• 30208423
• 35719279
• 37867960

I don't know

No additional reports in the literature, but a zebrafish knockout model shows role in the development of the retina (PMID:37867960)

Created: 3 Feb 2025, 9:34 p.m. | Last Modified: 3 Feb 2025, 9:34 p.m.

Panel Version: 7.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 24737827
• 30208423
• 37867960

Green List (high evidence)

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.