Hereditary neuropathy

Gene: SBF1

Green List (high evidence)

several families. PMID:23749797 - SBF1 protein shows 59% sequence identity to SBF2 (607697), which is mutant in CMT4B2. Compound heterozygosity for 2 missense mutations in the SBF1 gene. Segregated with the disorder in the family (childhood progressive limb muscle weakness and distal sensory impairment interfering with the ability to walk). Sural nerve biopsy and electrophysiologic studies indicated a demyelinating process. PMID:24799518 and PMID:21210780 - consanguineous Saudi family with CMT4B3 and mental retardation. Homozygous missense mutation found by exome sequencing. Functional studies of the variant were not performed. PMID:28005197 - novel sequence variants in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features.

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B3, 615284

Publications

• 23749797
• 24799518
• 21210780
• 28005197

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

Green List (high evidence)

As a result of watchlist tag audit the watchlist tag was removed from SBF1- this is now a green gene with sufficient evidence/review

Created: 13 Jan 2020, 2:44 p.m. | Last Modified: 13 Jan 2020, 2:44 p.m.

Panel Version: 1.368

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.

Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.

Panel Version: 1.352

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 5 p.m.

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 29 Apr 2019, 12:53 p.m.

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

One patient identified in Gel cohort with possible compound heterozygous mutations in this gene. Uncertain significance but should review literature when panel next updated

Created: 19 Jan 2017, 11:02 a.m.

Comment on list classification: Await further evidence before promote to green list

Created: 8 Jul 2016, 4:07 a.m.

Comment on list classification: 2 family reports: PMID: 24799518 (Saudi) and PMID: 23749797 (Korean).

Created: 6 May 2016, 3:41 p.m.