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  2. Aortopathy_Connective Tissue Disorders
  3. PI4K2A
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Aortopathy_Connective Tissue Disorders

Gene: PI4K2A

Red List (low evidence)
PI4K2A (phosphatidylinositol 4-kinase type 2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000155252
EnsemblGeneIds (GRCh37): ENSG00000155252
OMIM: 609763, Gene2Phenotype
PI4K2A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous missense variant and functional data including mouse model.
Sources: Literature
Created: 19 Oct 2020, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, intellectual disability, movement disorder

Publications

Created: 19 Oct 2020, 9:25 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cutis laxa, intellectual disability, movement disorder
OMIM
609763
Clinvar variants
Variants in PI4K2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pi4k2a has been classified as Red List (Low Evidence).

19 Oct 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: PI4K2A was added gene: PI4K2A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4K2A were set to 32418222 Phenotypes for gene: PI4K2A were set to Cutis laxa, intellectual disability, movement disorder Review for gene: PI4K2A was set to RED