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  2. Congenital disorders of glycosylation
  3. ALG1
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Congenital disorders of glycosylation

Gene: ALG1

Green List (high evidence)
ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 15 Dec 2016, 9:51 a.m.
Created: 15 Dec 2016, 9:51 a.m.

Panel version: 0.23

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 8 Dec 2016, 5:37 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
  • Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
OMIM
605907
Clinvar variants
Variants in ALG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ALG1 were set to Congenital disorder of glycosylation, type Ik 608540; Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)

15 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ALG1 were set to 22966035; 14973782; 26931382

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

ALG1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ALG1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene ALG1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG1 was added to Congenital disorders of glycosylationpanel. Source: Literature

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALG1 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory