Hereditary Neuropathy_CMT - isolated
Gene: GBF1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483
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: LiteratureCreated: 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
Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Gene: gbf1 has been classified as Green List (High Evidence).
Gene: gbf1 has been classified as Green List (High Evidence).
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