Cholestasis
Gene: AMACR
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, 10:31 a.m.
Miranda Durkie (Sheffield Diagnostic Genetics Service) discussed with Simon Olpin (Sheffield Children's NHS Foundation Trust) about the inclusion of AMARC on this panel. He recommends that the gene remains as a green gene on the panel and that he has diagnosed 3 cases of AMARC deficiency in the clinic.Created: 31 Jan 2019, 10:31 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: AMACR; 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.
AMACR is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disordersCreated: 25 Jul 2018, 4:28 p.m.
Comment when marking as ready: Currently only 2 cases reported to date so rating as Amber.Created: 25 Jul 2018, 3:50 p.m.
Comment on phenotypes: Added phenotypes from OMIMCreated: 25 Jul 2018, 3:49 p.m.
Comment on publications: Publications related to casesCreated: 25 Jul 2018, 3:48 p.m.
Comment on mode of inheritance: MOI reported in OMIMCreated: 25 Jul 2018, 3:47 p.m.
Comment on list classification: 2 cases reported associated with Bile acid synthesis defect, congenital, 4Created: 25 Jul 2018, 3:46 p.m.
In OMIM this gene is associated with Bile acid synthesis defect, congenital, 4 which has Intrahepatic cholestasis and Neonatal onset listed as clinical features. OMIM reports two publications reporting cases: In a child with a defect in bile acid synthesis (CBAS4), Ferdinandusse et al. (2000) (PMID: 10655068) identified a homozygous mutation in the AMACR gene (LEU107PRO). Functional expression studies of the mutation in E. coli showed complete absence of enzyme activity. In an infant with a defect in bile acid synthesis, Setchell et al. (2003)(PMID: 12512044) identified a homozygous mutation in the AMACR gene (S52P). No data in Gene2Phenotype. No other cases of SNV reported in Clinvar. No other relevant publications found from PubMed search.Created: 25 Jul 2018, 3:45 p.m.
Phenotypes
cholangiopathy
Gene: amacr has been classified as Green List (High Evidence).
Source Other was added to AMACR. Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950 for gene: AMACR Publications for gene AMACR were changed from to 12512044; 10655068
Source Expert Review Green was added to AMACR. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: AMACR was added gene: AMACR was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: AMACR was set to