ATP8A2

ATPase phospholipid transporting 8A2
OMIM: 605870, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ATP8A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 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 1.2302	1 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 0.572	1 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 1.63	1 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 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 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	0 reviews	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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)