Genes in panel

Hereditary neuropathy

Gene: SBF1

Green List (high evidence)

SBF1 (SET binding factor 1)
EnsemblGeneIds (GRCh38): ENSG00000100241
EnsemblGeneIds (GRCh37): ENSG00000100241
OMIM: 603560, Gene2Phenotype
SBF1 is in 4 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)

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.

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
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, 615284
Tags
watchlist
OMIM
603560
Clinvar variants
Variants in SBF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SBF1. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1 Publications for gene SBF1 were changed from to 28005197; 23749797; 21210780; 24799518

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SBF1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SBF1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SBF1.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

SBF1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

SBF1 was created by MReilly-925