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  2. Hereditary Neuropathy_CMT - isolated
  3. SBF2
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Hereditary Neuropathy_CMT - isolated

Gene: SBF2

Green List (high evidence)
SBF2 (SET binding factor 2)
EnsemblGeneIds (GRCh38): ENSG00000133812
EnsemblGeneIds (GRCh37): ENSG00000133812
OMIM: 607697, Gene2Phenotype
SBF2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive Charcot-Marie-Tooth disease type 4B is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths.

More than 10 unrelated families reported, animal model.
Created: 21 May 2021, 9:56 a.m. | Last Modified: 21 May 2021, 9:56 a.m.
Panel Version: 0.172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B2 , MIM#604563

Publications

Created: 21 May 2021, 9:56 a.m.
Last Modified: 21 May 2021, 9:56 a.m.
Panel version: 0.172

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4B2, MIM#604563
OMIM
607697
Clinvar variants
Variants in SBF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sbf2 has been classified as Green List (High Evidence).

21 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SBF2 were changed from HMSN; Charcot Marie Tooth disease, type 4B2, 604563 to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563

21 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SBF2 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SBF2 was added gene: SBF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, 604563