Cholestasis

Gene: ATP8B1

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:33 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ATP8B1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

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
  • 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
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

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to ATP8B1. Mode of inheritance for gene ATP8B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene ATP8B1 was changed from to Other - please provide details in the comments Added 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 for gene: ATP8B1

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ATP8B1. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ATP8B1 was added gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ATP8B1 was set to