1. Panels
  2. Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
  3. PIK3C2A
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Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy

Gene: PIK3C2A

Green List (high evidence)
PIK3C2A (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000011405
EnsemblGeneIds (GRCh37): ENSG00000011405
OMIM: 603601, Gene2Phenotype
PIK3C2A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ciliary dysfunction associated with prominent skeletal abnormalities in three unrelated families.
Sources: Expert list
Created: 24 May 2020, 11:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoskeletodental syndrome, MIM# 618440

Publications

Created: 24 May 2020, 11:26 a.m.

Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculoskeletodental syndrome, MIM# 618440
OMIM
603601
Clinvar variants
Variants in PIK3C2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2a has been classified as Green List (High Evidence).

24 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3c2a has been classified as Green List (High Evidence).

24 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3C2A was added gene: PIK3C2A was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIK3C2A were set to 31034465 Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome, MIM# 618440 Review for gene: PIK3C2A was set to GREEN