Hereditary neuropathy or pain disorder
Gene: SCP2
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.
Single patientCreated: 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
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