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  2. Hereditary Neuropathy_CMT - isolated
  3. GNB4
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Hereditary Neuropathy_CMT - isolated

Gene: GNB4

Green List (high evidence)
GNB4 (G protein subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000114450
EnsemblGeneIds (GRCh37): ENSG00000114450
OMIM: 610863, Gene2Phenotype
GNB4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.

Four unrelated families reported.
Created: 4 May 2021, 4:44 a.m. | Last Modified: 4 May 2021, 4:44 a.m.
Panel Version: 0.95

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074

Publications

Created: 4 May 2021, 4:44 a.m.
Last Modified: 4 May 2021, 4:44 a.m.
Panel version: 0.95

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185
  • MONDO:0014074
  • HMSN
OMIM
610863
Clinvar variants
Variants in GNB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb4 has been classified as Green List (High Evidence).

4 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNB4 were changed from Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN to Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185; MONDO:0014074; HMSN

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB4 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNB4 was added gene: GNB4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN