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  2. Muscular dystrophy and myopathy_Paediatric
  3. DPM2
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Muscular dystrophy and myopathy_Paediatric

Gene: DPM2

Amber List (moderate evidence)
DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported only.
Created: 11 Jul 2020, 5:13 a.m. | Last Modified: 11 Jul 2020, 5:13 a.m.
Panel Version: 0.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu, MIM# 615042

Publications

Created: 11 Jul 2020, 5:13 a.m.
Last Modified: 11 Jul 2020, 5:13 a.m.
Panel version: 0.55

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two cases with muscular dystrophy
Sources: Expert Review
Created: 25 Feb 2020, 12:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu MIM#615042

Publications

Created: 25 Feb 2020, 12:24 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.80

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu, MIM# 615042
OMIM
603564
Clinvar variants
Variants in DPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm2 has been classified as Amber List (Moderate Evidence).

11 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu, MIM# 615042

11 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPM2 were set to

11 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPM2 was added gene: DPM2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DPM2 was set to Unknown