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Inborn errors of metabolism

Gene: ALG3

Green List (high evidence)

ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
  • ALG3-CDG (Disorders of protein N-glycosylation)
OMIM
608750
Clinvar variants
Variants in ALG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALG3. Source London North GLH was added to ALG3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110 for gene: ALG3 Publications for gene ALG3 were changed from 27604308 to 15108280; 19862844

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ALG3 was added gene: ALG3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG3 were set to 27604308 Phenotypes for gene: ALG3 were set to Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation); ALG3-CDG (Disorders of protein N-glycosylation)