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Hereditary neuropathy NOT PMP22 copy number

Gene: GBF1

No list

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

1 review

Zornitza Stark (Australian Genomics)

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, 9:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axonal Neuropathy

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Axonal Neuropathy
OMIM
603698
Clinvar variants
Variants in GBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GBF1 was added gene: GBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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