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  2. Likely inborn error of metabolism
  3. ALG11
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Likely inborn error of metabolism

Gene: ALG11

Green List (high evidence)
ALG11 (ALG11, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ALG11-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ip 613661
OMIM
613666
Clinvar variants
Variants in ALG11
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 ALG11. Source London North GLH was added to ALG11.

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 ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11 Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ALG11 was added gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG11 were set to 27604308; 22213132 Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661