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Newborns main panel

Gene: PIH1D3

Green List (high evidence)
PIH1D3 (PIH1 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000080572
EnsemblGeneIds (GRCh37): ENSG00000080572
OMIM: 300933, Gene2Phenotype
PIH1D3 is in 5 panels

2 reviews

Mafalda de Almeida Gomes (UCL)

Green List (high evidence)

This gene should be green. ClinGen Moitle Ciliopathies group has recently curated this gene and classified as Definitive for PCD. Although this has still not been published, it has been approved. Genetic evidence points reached the maximum (12 points in ClinGen). Evidence summary by ClinGen will soon be published.
Created: 17 May 2024, 11:11 a.m. | Last Modified: 17 May 2024, 11:12 a.m.
Panel Version: 0.454
Created: 17 May 2024, 11:11 a.m.
Last Modified: 17 May 2024, 11:12 a.m.
Panel version: 0.454

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 28041644 - 2 families PMID: 33812756 - 1 case PMID: 28176794 - 9 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked
Tags
new-gene-name
OMIM
300933
Clinvar variants
Variants in PIH1D3
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PIH1D3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: pih1d3 has been classified as Amber List (Moderate Evidence).

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag new-gene-name tag was added to gene: PIH1D3.

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: PIH1D3. Tag DNAAF6 was removed from gene: PIH1D3.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ciliary dyskinesia, primary, 36, X-linked for gene: PIH1D3

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: PIH1D3 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PIH1D3. Mode of inheritance for gene PIH1D3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 36, X-linked for gene: PIH1D3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: PIH1D3. Tag DNAAF6 tag was added to gene: PIH1D3.

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: PIH1D3 was added gene: PIH1D3 was added to Newborns main panel. Sources: Expert Review Amber 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