Neonatal cholestasis
Gene: CYP27A1EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added OMIM MIMidCreated: 25 Jul 2018, 2:27 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Jane Hartley (Birmingham Women and Children's Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Severe neonatal cholestasis
- Cerebrotendinous xanthomatosis, 213700
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Familial hypercholesterolaemia
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CYP27A1 were set to Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cyp27a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cyp27a1 has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CYP27A1 were set to Severe neonatal cholestasis; Cerebrotendinous xanthomatosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CYP27A1 were set to 28937538; 2019602; 8514861; 7915755; 9186905; 11903362; 12000359; 16278884
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CYP27A1 were set to 28937538
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CYP27A1 were set to 28937538
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CYP27A1 were set to 2019602; 8514861; 7915755; 9186905; 11903362; 12000359; 16278884
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to CYP27A1. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)CYP27A1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)CYP27A1 was created by Ellen McDonagh