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Skeletal dysplasia

Gene: DNAAF1

Red List (low evidence)

DNAAF1 (dynein axonemal assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000154099
EnsemblGeneIds (GRCh37): ENSG00000154099
OMIM: 613190, Gene2Phenotype
DNAAF1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported, laterality defects variable, mouse model.
Created: 18 Oct 2020, 10:11 a.m. | Last Modified: 18 Oct 2020, 10:11 a.m.
Panel Version: 0.5029

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 13, MIM# 613193

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: DNAAF1 was added gene: DNAAF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: DNAAF1 was set to