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Arthrogryposis

Gene: PI4KA

Red List (low evidence)

PI4KA (phosphatidylinositol 4-kinase alpha)
EnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 4 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in three foetuses from one family
Created: 5 Jan 2017, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531
OMIM
600286
Clinvar variants
Variants in PI4KA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

PI4KA was added to Arthrogryposispanel. Sources: Literature

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

PI4KA was created by agardham