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Inborn errors of metabolism

Gene: ALG9

Green List (high evidence)

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 14 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
  • ALG9-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Il 608776
OMIM
606941
Clinvar variants
Variants in ALG9
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 ALG9. Source London North GLH was added to ALG9.

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 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776 for gene: ALG9 Publications for gene ALG9 were changed from 27604308; 15148656; 25966638 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: ALG9 was added gene: ALG9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 27604308; 15148656; 25966638 Phenotypes for gene: ALG9 were set to Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation); ALG9-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Il 608776