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  2. Muscular dystrophy and myopathy_Paediatric
  3. DPAGT1
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Muscular dystrophy and myopathy_Paediatric

Gene: DPAGT1

Green List (high evidence)
DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 cases reported with congenital myopathy, and at least 2 case with CMS mimicking a congenital myopathy
Sources: Literature
Created: 1 Aug 2024, 2:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
tubular aggregate myopathy MONDO:0008051

Publications

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

Created: 1 Aug 2024, 2:57 a.m.

Panel version: 1.64

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpagt1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dpagt1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DPAGT1 was added gene: DPAGT1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 38982518; 38443029; 38124360; 29356258; 24759841 Phenotypes for gene: DPAGT1 were set to tubular aggregate myopathy MONDO:0008051 Review for gene: DPAGT1 was set to GREEN gene: DPAGT1 was marked as current diagnostic