Neonatal cholestasis

Gene: ATP8B1

Green List (high evidence)

ATP8B1 (ATPase phospholipid transporting 8B1)
EnsemblGeneIds (GRCh38): ENSG00000081923
EnsemblGeneIds (GRCh37): ENSG00000081923
OMIM: 602397, Gene2Phenotype
ATP8B1 is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI
Created: 25 Jul 2018, 2:26 p.m.
Comment on mode of inheritance: changed MOI from external clinical review and publications
Created: 25 Jul 2018, 2:21 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PFIC1; progressive familial intrahepatic cholestasis type 1; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; modifier in other genetic causes of cholestasis

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Majority of pathogenic variants are missense; but there are also nonsense and splicing variants
Low diagnostic rate in our cohort; 3 diagnoses in 231 patients tested
Created: 1 Jun 2018, 12:58 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cholestasis; PFIC1; IPC1

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
602397
Clinvar variants
Variants in ATP8B1
Penetrance
None
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ATP8B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ATP8B1 was changed to Other - please provide details in the comments

21 Jun 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ATP8B1. Panel: Cholestasis

18 May 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to ATP8B1. Panel: Cholestasis Phenotypes for gene ATP8B1 were set to 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

18 May 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to ATP8B1. Panel: Cholestasis Model of inheritance for gene ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene ATP8B1 were set to 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

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to ATP8B1. Panel: Cholestasis Phenotypes for gene ATP8B1 were set to Neonatal and Adult Cholestasis, Cholestasis, benign recurrent intrahepatic, 243300, Cholestasis, intrahepatic, of pregnancy, 1, 147480, Cholestasis, progressive familial intrahepatic 1, 211600

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP8B1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ATP8B1 was created by Ellen McDonagh