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: ABCB4; 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 from external clinical review and publications
Created: 25 Jul 2018, 2:16 p.m.
Comment on phenotypes: added Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PFIC3; progressive familial intrahepatic cholestasis; benign recurrent intrahepatic cholestasis; intrahepatic cholestasis of pregnancy; cholelithiasis; gallstones; modifier in other forms of genetic cholestasis
majority of pathogenic variants are missense variants; but there are nonsense and splicing variants, too.
Created: 1 Jun 2018, 12:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cholestasis; PFIC; PFIC3
Mode of pathogenicity
Variants in this GENE are reported as part of current diagnostic practice
Gene: abcb4 has been classified as Green List (High Evidence).
Source Other was added to ABCB4. Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene ABCB4 was changed from to Other - please provide details in the comments Added phenotypes Progressive Familial Intrahepatic Cholestasis; modifier in other forms of genetic cholestasis; Familial Intrahepatic Cholestasis; gallstones; cholelithiasis; PFIC; PFIC3; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Neonatal and Adult Cholestasis; Cholestasis, Progressive Familial Intrahepatic 3 for gene: ABCB4
Source Expert Review Green was added to ABCB4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ABCB4 was added gene: ABCB4 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCB4 was set to