Hyperammonaemia
Gene: CYP27A1
CYP27A1 (cytochrome P450 family 27 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000135929
EnsemblGeneIds (GRCh37): ENSG00000135929
OMIM: 606530, Gene2Phenotype
CYP27A1 is in 28 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
Some infants develop liver fialure;hyperammonaemmia theoretically possibleCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrotendinous xanthomatosis presenting as liver disease in infancy
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 606530
- Clinvar variants
- Variants in CYP27A1
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Adult onset leukodystrophy
- Structural eye disease
- Familial hypercholesterolaemia
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- DDG2P
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CYP27A1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory