PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber PI4KA in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.207 Component of the following Super Panels: Malformations of cortical development_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Amber PI4KA in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Green PI4KA in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.100	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Green PI4KA in Mendeliome Version 1.4851	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621 Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Amber PI4KA in Combined Immunodeficiency Level 2: Immunological disorders Version 1.147 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Green PI4KA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Green PI4KA in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 0.394 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Green PI4KA in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.149 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621
Green PI4KA in Fetal anomalies Version 1.576	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679