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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PFIC1; progressive familial intrahepatic cholestasis type 1; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; modifier in other genetic causes of cholestasis
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
Cholestasis; PFIC1; IPC1
Mode of pathogenicity
Variants in this GENE are reported as part of current diagnostic practice
Gene: atp8b1 has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to ATP8B1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ATP8B1 was added gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ATP8B1 was set to