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Hearing loss

Gene: ATP8B1

Red List (low evidence)

ATP8B1 (ATPase phospholipid transporting 8B1)
EnsemblGeneIds (GRCh38): ENSG00000081923
EnsemblGeneIds (GRCh37): ENSG00000081923
OMIM: 602397, Gene2Phenotype
ATP8B1 is in 10 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#147480:Cholestasis, intrahepatic, of pregnancy, 1[Intrahepatic cholestasis during pregnancy, resolves postpartumAbnormal liver function tests during pregnancy, resolves postpartumHepatic fibrosis seen on biopsy (in some patients)Ductal proliferation seen on biopsy (in some patients); Pruritus during pregnancy, resolves postpartumJaundice (in some patients), resolved postpartum; Fetal distress; Premature deliveryIntrauterine fetal death; Abnormal liver function tests during pregnancy, resolves postpartumIncreased serum bile acid concentration during pregnancy, resolves postpartum]; #211600:Cholestasis, progressive familial intrahepatic 1[Short stature; Failure to thriveGrowth retardation; Intrahepatic cholestasisJaundiceHepatomegalyIntracanalicular cholestasis shown on biopsyGiant cell transformation shown on biopsyBridging fibrosis shown on biopsyCirrhosisEnd-stage liver disease before adulthood; Splenomegaly; DiarrheaMalabsorption of fat and fat-soluble vitamins; JaundicePruritus; Normal or mildly increased serum gamma-GGT ()Decreased serum cholesterolConjugated hyperbilirubinemiaIncreased serum bile acids]; #243300:Cholestasis, benign recurrent intrahepatic[Intrahepatic cholestasis, episodic, recurrentJaundice, episodicHepatomegalyProgression to end-stage liver disease does not occur; Pancreatitis; Jaundice, episodicPruritus, episodic; Normal or mildly increased serum gamma-GGT ()Conjugated hyperbilirubinemiaIncreased serum bile acids]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP8B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert