1. Panels
  2. Paediatric motor neuronopathies
  3. FBXO38
STRs in panel
Prev Next

Paediatric motor neuronopathies

Gene: FBXO38

Red List (low evidence)
FBXO38 (F-box protein 38)
EnsemblGeneIds (GRCh38): ENSG00000145868
EnsemblGeneIds (GRCh37): ENSG00000145868
OMIM: 608533, Gene2Phenotype
FBXO38 is in 3 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only two families identified
Created: 26 Jan 2017, 2:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type IID 615575

Publications

Created: 26 Jan 2017, 2:09 p.m.

Panel version: 0.84

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID 615575
OMIM
608533
Clinvar variants
Variants in FBXO38
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

26 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

FBXO38 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen

26 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

FBXO38 was created by agardham