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Mendeliome

Gene: PIH1D3

Green List (high evidence)

PIH1D3 (PIH1 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000080572
EnsemblGeneIds (GRCh37): ENSG00000080572
OMIM: 300933, Gene2Phenotype
PIH1D3 is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

New HGNC Gene name: DNAAF6

Classified as DEFINITIVE by Motile Ciliopathy ClinGen GCEP on 17/08/2024 - https://search.clinicalgenome.org/CCID:008266
Created: 16 Sep 2024, 4:20 a.m. | Last Modified: 16 Sep 2024, 4:20 a.m.
Panel Version: 1.2013

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

Phenotypes
ciliary dyskinesia, primary, 36, X-linked MONDO:0010517

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PCD with variable situs inversus.
Created: 11 May 2020, 10:29 a.m. | Last Modified: 11 May 2020, 10:29 a.m.
Panel Version: 0.2795

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

Phenotypes
Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pih1d3 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

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)

11 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIH1D3 were set to

11 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIH1D3 was added gene: PIH1D3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIH1D3 was set to Unknown