Primary ciliary disorders

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: 1.40

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to new evidence.
Created: 21 Feb 2017, 11:18 a.m.
Two publications reporting molecular defects in affected males from 11 unrelated families.
Created: 8 Feb 2017, 6:29 p.m.

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

Phenotypes
X-linked primary ciliary dyskinesia; X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • X-linked primary ciliary dyskinesia
  • X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Tags
new-gene-name
OMIM
300933
Clinvar variants
Variants in PIH1D3
Penetrance
Complete
Publications
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.

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Feb 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

8 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PIH1D3 was added to Primary ciliary disorderspanel. Sources: Expert Review,Literature

8 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIH1D3 was created by ellenmcdonagh