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Intellectual disability syndromic and non-syndromic

Gene: DPM3

Red List (low evidence)

DPM3 (dolichyl-phosphate mannosyltransferase subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Most affected individuals reported to date have not had ID.
Created: 1 Feb 2020, 10:26 a.m. | Last Modified: 1 Feb 2020, 10:26 a.m.
Panel Version: 0.1908

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
OMIM
605951
Clinvar variants
Variants in DPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm3 has been classified as Red List (Low Evidence).

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPM3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPM3 were set to

1 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPM3 were changed from to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937

1 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm3 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPM3 was added gene: DPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM3 was set to Unknown