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Genetic epilepsy syndromes

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Congenital disorders of glycosylation could characterized by elevated levels of disialo- and asialotransferrinat the expense of tetrasialotransferrin due to the loss of complete N-glycan chains on the transferrin protein backbone (this can be achived by isoelectric focusing). Pubmed 22213132AR congenital disorder of glycosylation type Ip - Rind et al, 2010 - 2 sibs born of consang parents - multisystem metabolic disorder incl seizures and death by 2 years - hom missense mutation. Thiel et al, 2012 - 3 unrelated patients - all had seizures - hom or compound het variants - all at conserved residues. Teneji et al, 2017 - 2 patients with ALG11 mutations - onr hom and one compound het.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip, 613661

Publications

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Can present with epileptic encephalopathy
Created: 27 Sep 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip 613661

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ip
OMIM
613666
Clinvar variants
Variants in ALG11
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ALG11.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALG11.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Can present with epileptic enc

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ALG11. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ALG11 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ALG11 was created by Sarah Leigh