Hereditary Neuropathy - complex
Gene: SBF1EnsemblGeneIds (GRCh38): ENSG00000100241
EnsemblGeneIds (GRCh37): ENSG00000100241
OMIM: 603560, Gene2Phenotype
SBF1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies.
Sources: Expert ReviewCreated: 21 May 2021, 10:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4B3 , MIM#615284
- MONDO:0014117
- OMIM
- 603560
- Clinvar variants
- Variants in SBF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sbf1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sbf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SBF1 was added gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117 Review for gene: SBF1 was set to GREEN