ATP8A2

ATPase phospholipid transporting 8A2
OMIM: 605870, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ATP8A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268
Green ATP8A2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Green ATP8A2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green
Green ATP8A2 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 Genetic Health Queensland Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Green ATP8A2 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Green ATP8A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Green ATP8A2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4