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Intellectual disability

Gene: DPM2

Red List (low evidence)

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 12 panels

1 review

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

Congenital disorder of glycosylation, type Iu


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

History Filter Activity

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


Zornitza Stark (Australian Genomics)

DPM2 was created by Zornitza Stark