Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: DYNC2H1EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- 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: LiteratureCreated: 8 Jul 2021, 1:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
non-syndromic retinitis pigmentosa
Publications
- PMID: 32753734
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- non-syndromic retinitis pigmentosa
- OMIM
- 603297
- Clinvar variants
- Variants in DYNC2H1
- Penetrance
- None
- Publications
-
- PMID: 32753734
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Skeletal Dysplasia_Fetal
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Skeletal dysplasia
- Fetal anomalies
- Mendeliome
- Prepair 500+
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dync2h1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dync2h1 has been classified as Green List (High Evidence).
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