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Mackenzie's Mission_Reproductive Carrier Screening

Gene: DNAH5

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
OMIM
603335
Clinvar variants
Variants in DNAH5
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH5 was added gene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)