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ATP6AP2

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 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 Cholestasis Level 2: Gastrohepatology Version 4.17 Latest signed off version: v4.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIr, OMIM:301045 congenital disorder of glycosylation, type IIr, MONDO:0026765 congenital disorder of glycosylation, type IIr, X-linked recessive Tags Q3_26_promote_green
Amber ATP6AP2 in Congenital disorders of glycosylation Level 2: Metabolic Version 8.7 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIr, OMIM:301045 congenital disorder of glycosylation, type IIr, MONDO:0026765 congenital disorder of glycosylation, type IIr, X-linked recessive Tags Q3_26_promote_green
Amber ATP6AP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 9.24 Latest signed off version: v9.0 (6 May 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIr, OMIM:301045 congenital disorder of glycosylation, type IIr, MONDO:0026765 congenital disorder of glycosylation, type IIr, X-linked recessive
Amber ATP6AP2 in Adult onset neurodegenerative disorder Level 2: Neurology Version 9.3 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319 Tags watchlist
Amber ATP6AP2 in Likely inborn error of metabolism Level 2: Metabolic Version 9.24 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIr, OMIM:301045 congenital disorder of glycosylation, type IIr, MONDO:0026765 congenital disorder of glycosylation, type IIr, X-linked recessive Tags Q3_26_promote_green
Red ATP6AP2 in DDG2P Version 7.8 Latest signed off version: v7.0 (6 May 2026) 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 9.34 Latest signed off version: v9.0 (6 May 2026) 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Literature Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319 Tags Q3_26_promote_green
Green ATP6AP2 in Intellectual disability Level 2: Developmental disorders Version 10.54 Latest signed off version: v10.0 (6 May 2026) 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 Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319 Tags Q3_26_MOI
Red ATP6AP2 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 6.4 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319