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  2. Renal Ciliopathies and Nephronophthisis
  3. DYNC2H1
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Renal Ciliopathies and Nephronophthisis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primarily a skeletal ciliopathy but renal involvement reported.
Created: 16 Jul 2021, 10 a.m. | Last Modified: 16 Jul 2021, 10 a.m.
Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127

Publications

Created: 16 Jul 2021, 10 a.m.
Last Modified: 16 Jul 2021, 10 a.m.
Panel version: 0.226

History Filter Activity

16 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127MONDO:0013127

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

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

16 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYNC2H1 were set to

16 Jul 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: DYNC2H1 was set to Unknown