Retinal disorders

Gene: DYNC2H1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:45 p.m. | Last Modified: 2 May 2024, 1:45 p.m.

Panel Version: 5.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence (five unrelated cases) in support of the association of this gene with inherited retinal disease. Hence, this gene can be promoted to green rating in the next GMS review.

Created: 28 Jul 2023, 2:07 p.m. | Last Modified: 28 Jul 2023, 2:07 p.m.

Panel Version: 4.20

PMID:32753734 reported five affected unrelated probands with homozygous or compound heterozygous missense and premature termination codon (PTC) variants. They presented with autosomal recessive retinitis pigmentosa.

Created: 28 Jul 2023, 2:05 p.m. | Last Modified: 28 Jul 2023, 2:05 p.m.

Panel Version: 4.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa, MONDO:0019200

Publications

• 32753734

ESHG 2020 - Presentation/abstract - C06.5 - DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration - Vig et al. Genome and exome sequencing were performed for 5 unrelated cases of inherited retinal disease with no identified variant. Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779 A>T; V3, g.103112272 C>G; V4, g.103070104 A>C) and one previously reported (V5, g.103339363 T>G) were identified. The variants were either hypomorphic or affect a retina-predominant transcript. First report of DYNC2H1 variants, causing non-syndromic IRD. 3 of the families from the UK shared the same homozygous variant (V3) - possible founder mutation in South Asias in the UK.
Note this gene produces a dynein-2 protein that is found in cilia.
No publication relating to this work has been found in PubMed at this time.
Sources: Literature

Created: 13 Jun 2020, 7:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal