Hereditary Neuropathy_CMT - isolated
Gene: DRP2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Panel Version: 0.12

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

Phenotypes
X-linked Charcot-Marie-Tooth

Publications

Created: 31 Mar 2020, 9:05 a.m.
Last Modified: 31 Mar 2020, 9:05 a.m.
Panel version: 0.12

Details

Mode of Inheritance

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

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Charcot Marie Tooth, intermediate X-linked
HMSN

OMIM

300052

Clinvar variants

Variants in DRP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drp2 has been classified as Green List (High Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DRP2 was added gene: DRP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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 22764250; 26227883; 31217940 Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN

Hereditary Neuropathy_CMT - isolated Gene: DRP2