ATP6AP2

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red ATP6AP2 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes ?Parkinsonism with spasticity, X-linked 300911 Mental retardation, X-linked, syndromic, Hedera type 300423 Tags watchlist
Amber ATP6AP2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH Phenotypes ?Parkinsonism with spasticity, X-linked, OMIM:300911 Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 Tags watchlist
Red ATP6AP2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
Amber ATP6AP2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Literature Literature Phenotypes Mental retardation, X-linked, syndromic, Hedera type Tags watchlist
Green ATP6AP2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, syndromic, Hedera type, 300423 MENTAL RETARDATION X-LINKED WITH EPILEPSY X-linked intellectual disability, Hedera type
Red ATP6AP2 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS South West GLH Expert Review Red Phenotypes ?Parkinsonism with spasticity, X-linked 300911 Mental retardation, X-linked, syndromic, Hedera type 300423