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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. PIH1D3
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Respiratory ciliopathies including non-CF bronchiectasis

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

3 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: 1.56
Created: 10 May 2022, 3:17 p.m.
Last Modified: 10 May 2022, 3:17 p.m.
Panel version: 1.56

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 gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 1:54 p.m.
Created: 5 Dec 2018, 1:54 p.m.

Panel version: 0.2

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

Created: 8 Feb 2017, 6:26 p.m.

Panel version: Imported from Primary ciliary disorders panel version 1.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
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
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.

17 Jan 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes

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 Added phenotypes X-linked primary ciliary dyskinesia; X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects for gene: PIH1D3

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 Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: PIH1D3 was set to