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  3. ERBB3
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Hereditary neuropathy or pain disorder

Gene: ERBB3

Red List (low evidence)
ERBB3 (erb-b2 receptor tyrosine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000065361
EnsemblGeneIds (GRCh37): ENSG00000065361
OMIM: 190151, Gene2Phenotype
ERBB3 is in 6 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.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.300

Alexander Rossor (UCL Institute of Neurology)

I don't know

Single family, similar genes cause same phenotype
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple joint contractures,, anterior horn atrophy, death in neonatal period, distended urinary bladder

Publications

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

Panel version: Imported from Hereditary neuropathy panel version 1.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Lethal congenital contractural syndrome 2, 607598
  • Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
OMIM
190151
Clinvar variants
Variants in ERBB3
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: ERBB3 was added gene: ERBB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 17709104 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598; Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder