Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary neuropathy NOT PMP22 copy number

Gene: DRP2

Amber List (moderate evidence)

DRP2 (dystrophin related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000102385
EnsemblGeneIds (GRCh37): ENSG00000102385
OMIM: 300052, Gene2Phenotype
DRP2 is in 2 panels

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families and functional data.
Created: 31 Mar 2020, 9:05 a.m. | Last Modified: 31 Mar 2020, 9:05 a.m.
Panel Version: 1.4

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

Phenotypes
X-linked Charcot-Marie-Tooth

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? 2 cases but functional studies don't show features of neuropathy - Amber? More evidence needed
Created: 6 Dec 2019, 2:29 p.m. | Last Modified: 6 Dec 2019, 2:29 p.m.
Panel Version: 0.36
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, 1:19 p.m. | Last Modified: 6 Dec 2019, 1:19 p.m.
Panel Version: 0.11
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.

Natalie Forrester (SWGLH - Bristol Genetics)

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

Alexander Rossor (UCL Institute of Neurology)

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

Mary Reilly (Institute of Neurology)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
  • South West GLH
  • London North GLH
  • NHS GMS
  • London North GLH
  • NHS GMS
  • South West GLH
OMIM
300052
Clinvar variants
Variants in DRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: drp2 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: DRP2 was added gene: DRP2 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: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DRP2 were set to 26227883; 29473052