Respiratory ciliopathies including non-CF bronchiectasis
Gene: PIH1D3Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6Created: 10 May 2022, 3:17 p.m. | Last Modified: 10 May 2022, 3:17 p.m.
Panel Version: 1.56
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 givenCreated: 5 Dec 2018, 1:54 p.m.
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
Tag new-gene-name tag was added to gene: PIH1D3.
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
Source Expert Review Green was added to PIH1D3. Rating Changed from Red List (low evidence) to Green List (high evidence)
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