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Hereditary neuropathy NOT PMP22 copy number

Gene: FBXO38

Amber List (moderate evidence)

FBXO38 (F-box protein 38)
EnsemblGeneIds (GRCh38): ENSG00000145868
EnsemblGeneIds (GRCh37): ENSG00000145868
OMIM: 608533, Gene2Phenotype
FBXO38 is in 4 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

SMA phenotype. Possibly a green gene but additional info needed. PMID: 24207122 - missense mutation (absent from gnomAD) segregating in 2 families with SMA, some functional work
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, type IID, 615575

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?
Created: 6 Dec 2019, 8:08 p.m. | Last Modified: 7 Dec 2019, 2:21 p.m.
Panel Version: 0.92
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 8:04 p.m. | Last Modified: 6 Dec 2019, 8:04 p.m.
Panel Version: 0.55
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

I don't know

2 families but functional work not strong
Created: 16 May 2019, 4:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Richard Scott (Genomics England Curator)

Comment on list classification: Reported in two families with the same missense variant to date
Created: 8 Jul 2016, 3:56 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Seems to be reported in only one family, for Neuronopathy, distal hereditary motor, type IID in OMIM and in a literature search.
Created: 6 May 2016, 3:05 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID, 615575
OMIM
608533
Clinvar variants
Variants in FBXO38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fbxo38 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: FBXO38 was added gene: FBXO38 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO38 were set to 24207122 Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575