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Hereditary neuropathy NOT PMP22 copy number

Gene: NEBL

Red List (low evidence)

NEBL (nebulette)
EnsemblGeneIds (GRCh38): ENSG00000078114
EnsemblGeneIds (GRCh37): ENSG00000078114
OMIM: 605491, Gene2Phenotype
NEBL is in 4 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
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Cardiomyopathy

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

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.

Details

Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy
OMIM
605491
Clinvar variants
Variants in NEBL
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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