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Hereditary neuropathy NOT PMP22 copy number

Gene: SBF1

Green List (high evidence)

SBF1 (SET binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000100241
EnsemblGeneIds (GRCh37): ENSG00000100241
OMIM: 603560, Gene2Phenotype
SBF1 is in 5 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence: 1 more family - promote to Green
Created: 6 Dec 2019, 2:41 p.m. | Last Modified: 6 Dec 2019, 2:41 p.m.
Panel Version: 0.37
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:23 p.m. | Last Modified: 6 Dec 2019, 1:23 p.m.
Panel Version: 0.19
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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alice Gardham (Genomics England)

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.

Richard Scott (Genomics England Curator)

Comment on list classification: Await further evidence before promote to green list
Created: 8 Jul 2016, 4:07 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 2 family reports: PMID: 24799518 (Saudi) and PMID: 23749797 (Korean).
Created: 6 May 2016, 3:41 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, 615284
OMIM
603560
Clinvar variants
Variants in SBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: sbf1 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SBF1 was added gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284