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Intellectual disability syndromic and non-syndromic

Gene: DPM1

Green List (high evidence)

DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)
EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 10 panels

1 review

Sindhu V (Other)

Green List (high evidence)

More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.
Created: 5 Dec 2022, 5:22 a.m. | Last Modified: 5 Dec 2022, 5:22 a.m.
Panel Version: 0.5079

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acquired microcephaly; developmental delay; epilepsy; strabismus; hypotonia; cortical vision impairment; elevated creatine kinase; growth failure

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Ie, MIM# 608799
OMIM
603503
Clinvar variants
Variants in DPM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpm1 has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPM1 were set to 10642602; 23856421; 16641202; 15669674; 10642597

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DPM1 were set to

6 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPM1 was added gene: DPM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM1 was set to Unknown