Laterality disorders and isomerism

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

on CGGL Royal Brompton panel. Good but limited literature evidence (single ref).
Created: 25 Nov 2019, 11:19 p.m. | Last Modified: 25 Nov 2019, 11:19 p.m.
Panel Version: 0.51

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

Phenotypes
OMIM 300991 Ciliary dyskinesia, primary, 36, X-linked

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: PIH1D3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Details

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

History Filter Activity

27 Nov 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIH1D3 were set to

27 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PIH1D3 was added gene: PIH1D3 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: PIH1D3 was set to