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Mendeliome

Gene: DRP2

Green List (high evidence)

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.
Sources: Expert list
Created: 31 Mar 2020, 9:07 a.m.

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

Phenotypes
Charcot Marie Tooth, intermediate X-linked; HMSN

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
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).

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).

31 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DRP2 was added gene: DRP2 was added to Mendeliome. Sources: Expert list 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; 11430802; 31217940; 22764250; 29473052 Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN Review for gene: DRP2 was set to GREEN