Ciliary Dyskinesia
Gene: PIH1D3

PIH1D3 (PIH1 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000080572
EnsemblGeneIds (GRCh37): ENSG00000080572
OMIM: 300933, Gene2Phenotype
PIH1D3 is in 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported with PCD

PMID: 28176794; 6 families reported

PMID: 28041644; Reported 4 affected males from 2 families. Functional studies showed cilia and flagella immotility. (2016)

PMID: 24421334: Mouse model (2014)
Created: 11 May 2020, 1:36 a.m. | Last Modified: 11 May 2020, 1:36 a.m.

Panel Version: 0.68

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)

Publications

Created: 11 May 2020, 1:35 a.m.
Last Modified: 11 May 2020, 1:35 a.m.
Panel version: 0.68

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)

OMIM

300933

Clinvar variants

Variants in PIH1D3

Penetrance

None

Publications

Panels with this gene