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  2. Congenital disorders of glycosylation
  3. ALG12
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Congenital disorders of glycosylation

Gene: ALG12

Green List (high evidence)
ALG12 (ALG12, alpha-1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 9 panels

2 reviews

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Publications

Created: 9 Dec 2016, 12:38 p.m.

Panel version: 0.4

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 6 variants reported.
Created: 15 Dec 2016, 10:02 a.m.
Comment on mode of inheritance: MOI from DDG
Created: 1 Dec 2016, 9:42 a.m.
Created: 1 Dec 2016, 9:42 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
OMIM
607144
Clinvar variants
Variants in ALG12
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 publications

Sarah Leigh (Genomics England Curator)

Publications for ALG12 were set to 27604308; 17506107; 11983712

1 Dec 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ALG12 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

ALG12 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ALG12 was added to Congenital disorders of glycosylationpanel. Source: Literature

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ALG12 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALG12 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG12 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory