Hereditary neuropathy
Gene: DRP2
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
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.
Now second family with a nonsense mutation. PMID: 29473052 - c.1039C>T, p.Q347X mutation was found in a patient with sensorimotor neuropathy (unaffected mother carrier - X linked). 1 allele in gnomAD. PMID: 26227883 - Drp2 knockout mice lack Cajal bands and display myelin abnormalities but do not develop weakness or abnormal nerve conductions. Another Q269X variant in a 3 generation family, some with CMT and others just with hammertoes and abnormal gaitCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
2 families with functional evidenceCreated: 16 May 2019, 3:03 p.m.
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Single familyCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source Expert Review Amber was added to DRP2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GLH was added to DRP2.
Publications for gene DRP2 were changed from to 29473052; 26227883
Source NHS GMS was added to DRP2.
Source South West GLH was added to DRP2.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
DRP2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
DRP2 was created by MReilly-925