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  3. SH3BP4
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Hereditary Neuropathy_CMT - isolated

Gene: SH3BP4

Red List (low evidence)
SH3BP4 (SH3 domain binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000130147
EnsemblGeneIds (GRCh37): ENSG00000130147
OMIM: 605611, Gene2Phenotype
SH3BP4 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single family reported with inherited peripheral neuropathy, with no functional analyses.
Created: 23 Mar 2020, 5:50 a.m. | Last Modified: 23 Mar 2020, 5:50 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 23 Mar 2020, 5:50 a.m.
Last Modified: 23 Mar 2020, 5:50 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
OMIM
605611
Clinvar variants
Variants in SH3BP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh3bp4 has been classified as Red List (Low Evidence).

4 May 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SH3BP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SH3BP4 was added gene: SH3BP4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: SH3BP4 was set to Publications for gene: SH3BP4 were set to 24627108 Phenotypes for gene: SH3BP4 were set to HMSN