Hereditary Neuropathy_CMT - isolated

Gene: GBF1

Green List (high evidence)

GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000107862
EnsemblGeneIds (GRCh37): ENSG00000107862
OMIM: 603698, Gene2Phenotype
GBF1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Four unrelated families with individuals affected by sporadic or dominant Distal hereditary motor neuropathies (HMNs) or axonal Charcot-Marie-Tooth neuropathy (CMT2). 3 missense variants (1 de novo) and 1 nonsense variant (de novo).

Age of onset varied from childhood (nonsense variant) to 50s. Authors observed marked increase in Golgi fragmentation in primary fibroblasts derived from all affected individuals.
Sources: Literature
Created: 5 Oct 2020, 4:53 a.m.

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

Phenotypes
Axonal Neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
  • Axonal Neuropathy
OMIM
603698
Clinvar variants
Variants in GBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy

5 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gbf1 has been classified as Green List (High Evidence).

5 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gbf1 has been classified as Green List (High Evidence).

5 Oct 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: GBF1 was added gene: GBF1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GBF1 were set to 32937143 Phenotypes for gene: GBF1 were set to Axonal Neuropathy Review for gene: GBF1 was set to GREEN gene: GBF1 was marked as current diagnostic