PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531