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Hereditary neuropathy NOT PMP22 copy number

Gene: SCP2

Red List (low evidence)

SCP2 (sterol carrier protein 2)
EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Single patient
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
  • Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
OMIM
184755
Clinvar variants
Variants in SCP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SCP2 was added gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI