Hereditary neuropathy or pain disorder
Gene: MTTP
Numerous MTTP variants have been associated with OMIM:200100. This gene should be green on this panel, as the panel scope now includes complex phenotypes.Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, OMIM:200100
Publications
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorderCreated: 6 Dec 2019, 9:08 p.m. | Last Modified: 6 Dec 2019, 9:08 p.m.
Panel Version: 0.81
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, 9:07 p.m. | Last Modified: 6 Dec 2019, 9:07 p.m.
Panel Version: 0.81
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.
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:16 p.m. | Last Modified: 17 Mar 2024, 9:16 p.m.
Panel Version: 3.83
Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorderCreated: 20 May 2019, 6:26 p.m.
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Publications
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Tag Q2_24_promote_green tag was added to gene: MTTP. Tag Q2_24_NHS_review tag was added to gene: MTTP.
Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
Gene: mttp has been classified as Amber List (Moderate Evidence).
gene: MTTP was added gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: MTTP was set to Publications for gene: MTTP were set to 2991816 Phenotypes for gene: MTTP were set to Hereditary Neuropathies