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Prepair 1000+

Gene: ATP8B1

Green List (high evidence)

ATP8B1 (ATPase phospholipid transporting 8B1)
EnsemblGeneIds (GRCh38): ENSG00000081923
EnsemblGeneIds (GRCh37): ENSG00000081923
OMIM: 602397, Gene2Phenotype
ATP8B1 is in 11 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Childhood onset, variable severity.
No specific treatment available.
Created: 13 Aug 2024, 3:38 a.m. | Last Modified: 13 Aug 2024, 3:38 a.m.
Panel Version: 1.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 1, 211600 (3)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, 211600 (3)
OMIM
602397
Clinvar variants
Variants in ATP8B1
Penetrance
None
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp8b1 has been classified as Green List (High Evidence).

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 (3) for gene: ATP8B1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP8B1 was added gene: ATP8B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)