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STRs in panel
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Skeletal dysplasia

Gene: DNAH5

Red List (low evidence)

DNAH5 (dynein axonemal heavy chain 5)
EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 16627867; 30 families with PCD including 8 with unidentified 2nd hit
Created: 18 Feb 2020, 11:35 p.m. | Last Modified: 18 Feb 2020, 11:35 p.m.
Panel Version: 0.1386

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH5 was added gene: DNAH5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: DNAH5 was set to