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, 10:36 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: CYP27A1; 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 phenotypes: added OMIM MIMid
Created: 25 Jul 2018, 2:27 p.m.
Comment on list classification: >3 cases reported in PMID: 28937538 for neonatal cholestasis, and a green review.
Created: 25 Jul 2018, 10:30 a.m.
Comment on publications: PMID: 28937538 - 8 neonatal patients described with severe cholestasis with homozygous/compound heterozygous variants in this gene. For two patients parental origin of the variants was not confirmed. No patient harbored a putatively pathogenic mutation in genes other than CYP27A1 that have been implicated in cholestatic liver disease. Conclusions from the publication were "CTX manifest as neonatal cholestasis has a bile acid profile different from CTX manifest in later life, and thus may be overlooked". Other publications are multiple cases/families providing evidence for the role of this gene in CTX (Cerebrotendinous xanthomatosis).
Created: 25 Jul 2018, 10:22 a.m.
Comment on list classification: Enzyme involved in the first step of the bile synthesis pathway.
Created: 25 Jul 2018, 10:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
severe neonatal cholestasis; cerebrotendinous xanthomatosis
Variants in this GENE are reported as part of current diagnostic practice
Gene: cyp27a1 has been classified as Green List (High Evidence).
Source Other was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1 Publications for gene CYP27A1 were changed from to 9186905; 28937538; 16278884; 11903362; 8514861; 2019602; 12000359; 7915755
Source Expert Review Green was added to CYP27A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CYP27A1 was added gene: CYP27A1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP27A1 was set to