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Skeletal dysplasia

Gene: ALG12

Green List (high evidence)

ALG12 (ALG12, alpha-1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 10 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Kranz et al 2007 described 2 sibs with a unique short limb SD. Murali et al 2014 report another case with rhizomelic short stature. Other cases have growth delay. Green - Resembles lysosomal storage diseases with skeletal involvement gp of SD. Greater than 3 cases reported. Kranz et al 2007 describe short limb SD in 2 sibs.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ig 607143

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ALG12; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 13 Jul 2016, 8:03 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)
Created: 8 Jul 2016, 1:54 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 15 Jun 2016, 2:01 p.m.

Mode of inheritance
Unknown

Phenotypes
Congenital disorder of glycosylation, type Ig 607143

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
OMIM
607144
Clinvar variants
Variants in ALG12
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type Ig 607143 for gene: ALG12

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ALG12. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 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).

13 Jul 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).

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ALG12 were set to Congenital disorder of glycosylation, type Ig 607143

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

8 Jul 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).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ALG12 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ALG12 was created by sleigh