Ciliopathies
Gene: DYNC2H1EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 50 unrelated families reported.Created: 3 Jul 2021, 4:10 a.m. | Last Modified: 3 Jul 2021, 4:10 a.m.
Panel Version: 0.347
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
- MONDO:0013127
- OMIM
- 603297
- Clinvar variants
- Variants in DYNC2H1
- Penetrance
- None
- Publications
- 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
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DYNC2H1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DYNC2H1 was added gene: DYNC2H1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DYNC2H1 was set to Unknown