Laterality disorders and isomerismGene: PIH1D3
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
OMIM 300991 Ciliary dyskinesia, primary, 36, X-linked
Variants in this GENE are reported as part of current diagnostic practice
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.
Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked, 300991
Publications for gene: PIH1D3 were set to
Mode of inheritance for gene: PIH1D3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: PIH1D3 was set to