Hereditary neuropathy

Gene: DRP2

I don't know

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.

I don't know

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 gait

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

• 29473052
• 26227883

Green List (high evidence)

2 families with functional evidence

Created: 16 May 2019, 3:03 p.m.

Single family

Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Red List (low evidence)

Single family

Created: 8 Dec 2015, 3:07 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females