Hereditary neuropathy or pain disorder

Gene: FBXO38

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

• 24207122

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

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.

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Comment on list classification: Reported in two families with the same missense variant to date

Created: 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.