Hereditary neuropathy or pain disorder
Gene: GBF1
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
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
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
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, 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
Tag Q2_23_promote_green was removed from gene: GBF1.
Source Expert Review Green was added to GBF1. Source NHS GMS was added to GBF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: GBF1.
Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483
Gene: gbf1 has been classified as Amber List (Moderate Evidence).
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