Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: SBF1

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 4 families with multiple affected individuals described. Some have had central features including microcephaly and DD/ID, it is likely this gene causes a mixed picture.
Sources: Expert list
Created: 16 Feb 2020, 6:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B3, MIM# 615284

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, MIM# 615284
OMIM
603560
Clinvar variants
Variants in SBF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SBF1 was added gene: SBF1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 24799518; 23749797; 30039846; 28902413 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 Review for gene: SBF1 was set to GREEN