Genes in panel

Hereditary neuropathy

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

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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
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 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to FBXO38. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 for gene: FBXO38

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to FBXO38.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FBXO38.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to FBXO38.

8 Jul 2016, Gel status: 1

Set publications

Richard Scott (Genomics England Curator)

Publications for FBXO38 were set to 24207122

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

6 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

FBXO38 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

FBXO38 was created by MReilly-925