PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber PI4KA in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	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
Green PI4KA in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	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 1.1902	review	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 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Green PI4KA in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Green PI4KA in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	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 1.255	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