Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: DYNC2H1

Green List (high evidence)

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Five affected probands with homozygous and compound heterozygous missense and PTC variants
- Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies)
Sources: Literature
Created: 8 Jul 2021, 1:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
non-syndromic retinitis pigmentosa

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync2h1 has been classified as Green List (High Evidence).

16 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync2h1 has been classified as Green List (High Evidence).

8 Jul 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: DYNC2H1 was added gene: DYNC2H1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to PMID: 32753734 Phenotypes for gene: DYNC2H1 were set to non-syndromic retinitis pigmentosa Review for gene: DYNC2H1 was set to GREEN gene: DYNC2H1 was marked as current diagnostic