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  3. ALG12
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Genetic Epilepsy

Gene: ALG12

Red List (low evidence)
ALG12 (ALG12, alpha-1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000182858
EnsemblGeneIds (GRCh37): ENSG00000182858
OMIM: 607144, Gene2Phenotype
ALG12 is in 11 panels

1 review

John Coleman (Murdoch Children's Research Institute)

Red List (low evidence)

Causes AR congenital disorder of gylcosolation type Ig. Listed as red list on panel app UK for Genetic Epilepsy. Epilepsy/ seizures not reported on OMIM phenotype. Seizure listed on Gene-reviews under CDG Ig however citations for this are linked to papers about CDG overall/ biochemical evidence rather than ALG12 variants. Pubmed search for "ALG12" and "epilepsy" shows no results. Search for "ALG12" and "seizure" linked to one paper only (PMID: 33618527), again only mention of seizure in this paper is related to CDGs in general and not a specific patient with ALG12/ CDG Type Ig. No established evidence of seizures or epilepsy in ALG12/ CDG type Ig phenotype.
Sources: NHS GMS, Literature
Created: 14 Dec 2023, 11:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; OMIM: 607144

Publications

Created: 14 Dec 2023, 11:33 p.m.

Panel version: 0.2028

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
  • OMIM: 607144
OMIM
607144
Clinvar variants
Variants in ALG12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg12 has been classified as Red List (Low Evidence).

15 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg12 has been classified as Red List (Low Evidence).

14 Dec 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

John Coleman (Murdoch Children's Research Institute)

gene: ALG12 was added gene: ALG12 was added to Genetic Epilepsy. Sources: NHS GMS,Literature Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to (PMID: 33618527) Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; OMIM: 607144 Review for gene: ALG12 was set to RED