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Hereditary neuropathy NOT PMP22 copy number

Gene: SPTBN2

Red List (low evidence)

SPTBN2 (spectrin beta, non-erythrocytic 2)
EnsemblGeneIds (GRCh38): ENSG00000173898
EnsemblGeneIds (GRCh37): ENSG00000173898
OMIM: 604985, Gene2Phenotype
SPTBN2 is in 12 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association. PMID: 28333917 - exome paper, little/no evidence
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Hereditary Neuropathies

Publications

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:50 a.m.

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.

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: SPTBN2 was added gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: SPTBN2 was set to Publications for gene: SPTBN2 were set to 28333917 Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies