Hereditary neuropathy or pain disorder
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
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.
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.
Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
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