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Intellectual disability syndromic and non-syndromic

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: 25 Nov 2020, 10:31 a.m. | Last Modified: 25 Nov 2020, 10:31 a.m.
Panel Version: 0.3217
3 patients from 2 families reported.
Created: 1 Feb 2020, 10:16 a.m. | Last Modified: 1 Feb 2020, 10:16 a.m.
Panel Version: 0.1904

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

25 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm2 has been classified as Green List (High Evidence).

1 Feb 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).

1 Feb 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

1 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPM2 were set to

1 Feb 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

1 Feb 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).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM2 was set to Unknown