ATP6AP2

ATPase H+ transporting accessory protein 2
OMIM: 300556, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ATP6AP2 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Parkinsonism with spasticity, X-linked, MIM# 300911
Green ATP6AP2 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045
Green ATP6AP2 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Parkinsonism with spasticity, X-linked MIM#300911 Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Green ATP6AP2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Green ATP6AP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Red ATP6AP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category C gene Phenotypes X-linked recessive intellectual deficit - epilepsy
Green ATP6AP2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045
Red ATP6AP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes X-linked recessive intellectual deficit - epilepsy