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  3. PIK3CD
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Ciliary Dyskinesia

Gene: PIK3CD

Amber List (moderate evidence)
PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Include as overlapping phenotype.
Created: 25 May 2020, 6:59 a.m. | Last Modified: 25 May 2020, 6:59 a.m.
Panel Version: 0.84
Created: 25 May 2020, 6:59 a.m.
Last Modified: 25 May 2020, 6:59 a.m.
Panel version: 0.84

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 30018075/OMIM reports gain of function as a proven mechanism, where variants cause increased phosphorylation of a target protein AKT and hyperactivation of PI3K-dependent signaling pathway

PMID: 31111319 - Review of >170 patients found where respiratory tract infections are a common feature

No other phenotypes reports reminiscent of PCD
Sources: Expert list
Created: 25 May 2020, 5:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Immunodeficiency 14 615513

Publications

Mode of pathogenicity
Other

Created: 25 May 2020, 5:23 a.m.

Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 14 615513
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3cd has been classified as Amber List (Moderate Evidence).

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3cd has been classified as Amber List (Moderate Evidence).

25 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Elena Savva (Victorian Clinical Genetics Services)

gene: PIK3CD was added gene: PIK3CD was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIK3CD were set to PMID: 30018075; 31111319 Phenotypes for gene: PIK3CD were set to Immunodeficiency 14 615513 Mode of pathogenicity for gene: PIK3CD was set to Other Review for gene: PIK3CD was set to AMBER