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  3. DYNC2H1
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Hydrops fetalis

Gene: DYNC2H1

Amber List (moderate 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)

I don't know

Two families reported with severe antenatal presentation including chylothorax, ascites, oedema.
Sources: Expert list
Created: 22 Aug 2020, 2:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091

Publications

Created: 22 Aug 2020, 2:01 a.m.

Panel version: 0.168

History Filter Activity

22 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync2h1 has been classified as Amber List (Moderate Evidence).

22 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync2h1 has been classified as Amber List (Moderate Evidence).

22 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYNC2H1 was added gene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to 27925158 Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 Review for gene: DYNC2H1 was set to AMBER