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  2. Fetal anomalies
  3. PIH1D3
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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 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6
Created: 10 May 2022, 3:17 p.m. | Last Modified: 10 May 2022, 3:17 p.m.
Panel Version: 1.860
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:12 p.m. | Last Modified: 1 Feb 2021, 3:12 p.m.
Panel Version: 1.468
Created: 1 Feb 2021, 3:12 p.m.
Last Modified: 1 Feb 2021, 3:12 p.m.
Panel version: 1.860

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders
Sources: Expert list

Situs inversus in ~50%
Created: 28 Jan 2021, 4:16 p.m. | Last Modified: 28 Jan 2021, 4:17 p.m.
Panel Version: 1.205

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

Phenotypes
Ciliary dyskinesia, primary, 36, X-linked

Created: 28 Jan 2021, 4:16 p.m.
Last Modified: 28 Jan 2021, 4:17 p.m.
Panel version: 1.205

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, OMIM:300991
  • Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Tags
new-gene-name
OMIM
300933
Clinvar variants
Variants in PIH1D3
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: PIH1D3.

3 Mar 2022, 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)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PIH1D3.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: PIH1D3 was added gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list 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 Review for gene: PIH1D3 was set to GREEN