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Fetal anomalies

Gene: ATP8B1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Post-natal onset.
Created: 29 Dec 2021, 9:03 p.m. | Last Modified: 29 Dec 2021, 9:03 p.m.
Panel Version: 0.1640

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 1, MIM# 211600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1, MIM# 211600
OMIM
602397
Clinvar variants
Variants in ATP8B1
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp8b1 has been classified as Red List (Low Evidence).

29 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP8B1 were changed from ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, progressive familial intrahepatic 1, MIM# 211600

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS