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Gene: PIH1D3

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

NOTE: HGNC Approved Gene Symbol: DNAAF6
Characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood (can include neonatal respiratory distress) and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects (eg situs inversus) due to ciliary dysfunction at the embryonic node. Can be maternally inherited or de novo in hemizygous males. Genomic deletions containing the PIH1D3 gene have been reported (PMID: 28176794).
Created: 30 Dec 2024, 4:44 a.m. | Last Modified: 30 Dec 2024, 4:44 a.m.
Panel Version: 1.978

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

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

Publications

Created: 30 Dec 2024, 4:44 a.m.
Last Modified: 30 Dec 2024, 4:44 a.m.
Panel version: 1.978

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, MIM #300991
OMIM
300933
Clinvar variants
Variants in PIH1D3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pih1d3 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive to Ciliary dyskinesia, primary, 36, X-linked, MIM #300991

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIH1D3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIH1D3 was added gene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive