Hereditary neuropathy
Gene: FBXO38
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 workCreated: 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
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.
2 families but functional work not strongCreated: 16 May 2019, 4:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Reported in two families with the same missense variant to dateCreated: 8 Jul 2016, 3:56 a.m.
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.
Source Expert Review Amber was added to FBXO38. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Added phenotypes Neuronopathy, distal hereditary motor, type IID, 615575 for gene: FBXO38
Source South West GLH was added to FBXO38.
Source NHS GMS was added to FBXO38.
Source London North GLH was added to FBXO38.
Publications for FBXO38 were set to 24207122
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
FBXO38 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
FBXO38 was created by MReilly-925