Hereditary neuropathy or pain disorder

Gene: GBF1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 10 Oct 2023, 6:06 p.m. | Last Modified: 10 Oct 2023, 6:06 p.m.

Panel Version: 3.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics) and Dmitrijs Rots (RadboudUMC), this gene should be promoted to GREEN at the next major review as there are four unrelated families identified with monoallelic (2 de novo and 2 dominant) variants in GBF1 gene and reported with distal hereditary motor neuropathies (HMNs)/ axonal Charcot-Marie-Tooth neuropathy (CMT2).

Created: 16 Apr 2023, 10:54 p.m. | Last Modified: 16 Apr 2023, 10:54 p.m.

Panel Version: 3.12

GBF1 is associated with relevant phenotype (MIM #606483) in OMIM, but not in Gene2Phenotype.

Created: 16 Apr 2023, 10:49 p.m. | Last Modified: 16 Apr 2023, 10:49 p.m.

Panel Version: 3.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483

Publications

• 32937143

Green List (high evidence)

Mendoza-Ferreira et al. (2020) reported 7 patients from 4 unrelated families with an axonal peripheral neuropathy.

Created: 23 Oct 2021, 8:59 a.m. | Last Modified: 23 Oct 2021, 8:59 a.m.

Panel Version: 1.64

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

• 32937143

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