Interstitial Lung Disease
Gene: PIH1D3EnsemblGeneIds (GRCh38): ENSG00000080572
EnsemblGeneIds (GRCh37): ENSG00000080572
OMIM: 300933, Gene2Phenotype
PIH1D3 is in 7 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
At least 5 unrelated families reported.
Supportive functional data.Created: 6 Nov 2021, 11:44 p.m. | Last Modified: 6 Nov 2021, 11:44 p.m.
Panel Version: 0.183
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Primary ciliary dyskinesia
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991
- OMIM
- 300933
- Clinvar variants
- Variants in PIH1D3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pih1d3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pih1d3 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIH1D3 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: PIH1D3 was added gene: PIH1D3 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females