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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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Childhood onset. Can affect cranial nerves, causing deafness. Glaucoma is also a feature.
Created: 4 Feb 2025, 7:21 a.m. | Last Modified: 4 Feb 2025, 7:21 a.m.
Panel Version: 1.1419

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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

HGNC approved symbol/name: SBF2
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? Y / N
Created: 4 Feb 2025, 3:54 a.m. | Last Modified: 4 Feb 2025, 3:54 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475
OMIM
607697
Clinvar variants
Variants in SBF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, 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).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SBF2 were changed from Charcot-Marie-Tooth disease, type 4B2, 604563 (3) to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SBF2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SBF2 was added gene: SBF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)