Hereditary neuropathy
Gene: SBF2
Several probands with proven compound heterozygous variants. Also one family with 3 affecteds all homozygous. PMID:12554688 - 4 individuals across 2 generations of a Turkish family with autosomal recessive CMT4B2 and same homozygous variant (first paper). PMID:17855448 - mouse model for Sbf2Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4B2, 604563
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1 p.m.
Added phenotypes Charcot Marie Tooth disease, type 4B2, 604563 for gene: SBF2 Publications for gene SBF2 were changed from to 17855448; 12554688
Source South West GLH was added to SBF2.
Source NHS GMS was added to SBF2.
Source London North GLH was added to SBF2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
SBF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
SBF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
SBF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene SBF2 was changed to BIALLELIC, autosomal or pseudoautosomal
SBF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
SBF2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory