Ciliary Dyskinesia
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Can cause bronchiectasis with limited immunological findings, include as an overlapping phenotype on this panel.Created: 25 May 2020, 6:58 a.m. | Last Modified: 25 May 2020, 6:58 a.m.
Panel Version: 0.83
Elena Savva (Victorian Clinical Genetics Services)
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 listCreated: 25 May 2020, 5:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Agammaglobulinemia 7, autosomal recessive 615214; Immunodeficiency 36 616005; SHORT syndrome 269880
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- ?Agammaglobulinemia 7, autosomal recessive 615214
- Immunodeficiency 36 616005
- SHORT syndrome 269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Glaucoma congenital
- Monogenic Diabetes
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Vascular Malformations_Germline
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Elena Savva (Victorian Clinical Genetics Services)gene: PIK3R1 was added gene: PIK3R1 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to PMID: 30018075; 31111319 Phenotypes for gene: PIK3R1 were set to ?Agammaglobulinemia 7, autosomal recessive 615214; Immunodeficiency 36 616005; SHORT syndrome 269880 Mode of pathogenicity for gene: PIK3R1 was set to Other Review for gene: PIK3R1 was set to AMBER