ATP8B1

ATPase phospholipid transporting 8B1
OMIM: 602397, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green ATP8B1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480 Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, Progressive Familial Intrahepatic 1 Familial Intrahepatic Cholestasis
Green ATP8B1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Familial Intrahepatic Cholestasis Cholestasis, intrahepatic, of pregnancy, 1, 147480 Cholestasis, Progressive Familial Intrahepatic 1 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, progressive familial intrahepatic 1, 211600 Neonatal and Adult Cholestasis
Green ATP8B1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Byler disease (Disorders of bile acid metabolism and transport) Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Cholestasis, progressive familial intrahepatic 1 211600
Green ATP8B1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 211600 Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Byler disease (Disorders of bile acid metabolism and transport)
Red ATP8B1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS
Green ATP8B1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
Red ATP8B1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Red ATP8B1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480
Red ATP8B1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH