Neonatal cholestasis
Gene: SCP2
SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. However, the phenotype associated with this gene does not appear to have any involvement with liver disease.Created: 15 Aug 2018, 2:31 p.m.
Comment on phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy 613724Created: 15 Aug 2018, 2:27 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Phenotypes
gallstones; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- ?Leukoencephalopathy with dystonia and motor neuropathy 613724
- OMIM
- 184755
- Clinvar variants
- Variants in SCP2
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Neonatal cholestasis
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
History Filter Activity
3 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
15 Aug 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: scp2 has been classified as Red List (Low Evidence).
15 Aug 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SCP2 were set to ?Leukoencephalopathy with dystonia and motor neuropathy 613724
15 Aug 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SCP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
18 May 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SCP2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
18 May 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)SCP2 was created by Ellen McDonagh