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  3. DPM2
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Intellectual disability

Gene: DPM2

Green List (high evidence)
DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM (MIM# 615042). Sufficient number of unrelated cases (3) with DPM2-CDG to rate Green at the next GMS panel update. Phenotypes include intellectual disability in all affected individuals.
Created: 20 Apr 2021, 10:04 a.m. | Last Modified: 20 Apr 2021, 10:04 a.m.
Panel Version: 3.1025
Created: 20 Apr 2021, 10:04 a.m.
Last Modified: 20 Apr 2021, 10:04 a.m.
Panel version: 3.1025

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Further unrelated individual reported, main clinical features were truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting.
Created: 10 Apr 2021, 10:27 a.m. | Last Modified: 10 Apr 2021, 10:27 a.m.
Panel Version: 3.1003
Three individuals from two unrelated families with biallelic variants in this gene, consider including as Amber.
Created: 22 Jun 2018, 10:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 10:55 a.m.

Panel version: 3.1003

Details

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

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: DPM2.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DPM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: DPM2.

20 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DPM2 were set to 23109149

20 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Apr 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to DPM2.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

DPM2 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

DPM2 was created by Zornitza Stark