Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Situs inverses can be part of the phenotype.
Created: 11 May 2020, 10:26 a.m. | Last Modified: 11 May 2020, 10:26 a.m.
Panel Version: 0.36

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

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

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991
  • Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
OMIM
300933
Clinvar variants
Variants in PIH1D3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, 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).

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIH1D3 were set to

1 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517