Cholestasis
Gene: ABCB11
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, 10:26 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: ABCB11; 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 givenCreated: 7 Jan 2019, 4:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive familial intrahepatic cholestasis; benign intrahepatic cholestasis; intrahepatic cholestasis in pregnancy; cholestasis; modifier in other cholestatic conditions
Variants in this GENE are reported as part of current diagnostic practice
LOF variants cause disease; but also missense variants cause diseaseCreated: 1 Jun 2018, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; PFIC2
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene: abcb11 has been classified as Green List (High Evidence).
Source Other was added to ABCB11. Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; PFIC2; Cholestasis, benign recurrent intrahepatic, 2, 605479; Neonatal and Adult Cholestasis for gene: ABCB11
Source Expert Review Green was added to ABCB11. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ABCB11 was added gene: ABCB11 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCB11 was set to