Hereditary Neuropathy_CMT - isolated
Gene: FBXO38EnsemblGeneIds (GRCh38): ENSG00000145868
EnsemblGeneIds (GRCh37): ENSG00000145868
OMIM: 608533, Gene2Phenotype
FBXO38 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported initially, segregating same variant, p.Cys206Arg. Said to be unrelated, some functional data. More recent report of homozygous variant associated with neuropathy.Created: 31 Mar 2020, 9:36 a.m. | Last Modified: 31 Mar 2020, 9:36 a.m.
Panel Version: 0.12
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, type IID, MIM# 615575
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type IID, 615575
- dHMN/dSMA
- OMIM
- 608533
- Clinvar variants
- Variants in FBXO38
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FBXO38 was added gene: FBXO38 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA