ATP6AP1

ATPase H+ transporting accessory protein 1
OMIM: 300197, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ATP6AP1 in COVID-19 research Level 2: Viral research Version 1.142	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Immunodeficiency and hepatopathy with or without neurologic features Hepatopathy, leukopenia, low copper Predominantly Antibody Deficiencies Immunodeficiency 47, 300972
Green ATP6AP1 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Immunodeficiency 47 300972
Green ATP6AP1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Immunodeficiency 47, 300972 Hepatopathy, leukopenia, low copper Predominantly Antibody Deficiencies Immunodeficiency and hepatopathy with or without neurologic features
Green ATP6AP1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47
Green ATP6AP1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47
Amber ATP6AP1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 Expert Review Amber Expert list Phenotypes Immunodeficiency 47, MIM#300972 Tags watchlist
Red ATP6AP1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green ATP6AP1 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 47, 300972