Neonatal cholestasis
Gene: CYP27A1Comment on phenotypes: added OMIM MIMidCreated: 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
Phenotypes
severe neonatal cholestasis; cerebrotendinous xanthomatosis
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: CYP27A1 were set to Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700
Gene: cyp27a1 has been classified as Green List (High Evidence).
Gene: cyp27a1 has been classified as Green List (High Evidence).
Phenotypes for gene: CYP27A1 were set to Severe neonatal cholestasis; Cerebrotendinous xanthomatosis
Publications for gene: CYP27A1 were set to 28937538; 2019602; 8514861; 7915755; 9186905; 11903362; 12000359; 16278884
Publications for gene: CYP27A1 were set to 28937538
Publications for gene: CYP27A1 were set to 28937538
Publications for gene: CYP27A1 were set to 2019602; 8514861; 7915755; 9186905; 11903362; 12000359; 16278884
Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to CYP27A1. Panel: Cholestasis
UKGTN was added to CYP27A1. Panel: Cholestasis Model of inheritance for gene CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene CYP27A1 were set to Neonatal and Adult Cholestasis, Cerebrotendinous xanthomatosis
CYP27A1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
CYP27A1 was created by Ellen McDonagh