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Fetal anomalies

Gene: ALG2

Red List (low evidence)

ALG2 (ALG2, alpha-1,3/1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000119523
EnsemblGeneIds (GRCh37): ENSG00000119523
OMIM: 607905, Gene2Phenotype
ALG2 is in 10 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 12684507
- 1x patient with multisystemic disorder with mental retardation, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities. Fibroblasts showed severely reduced enzymatic activity.

PMID: 23404334
- 2x families with Congenital myasthenic syndrome. Authors claimed the standard transferrin glycoform analysis did not show any abnormalities suggesting only modest impairment of N-linked glycosylation. However data was not shown.

PMID: 24461433
- 3 affecteds in 1 consanguineous family. 1 has normal transferrin results and 2x mildly elevated
Created: 15 Jul 2020, 2:19 a.m. | Last Modified: 15 Jul 2020, 2:19 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ii (MIM# 607906)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association with myasthenia: Two families reported, same, likely founder variant. Onset of symptoms was in infancy rather than congenital.

Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.
Created: 30 Nov 2021, 1:29 a.m. | Last Modified: 30 Nov 2021, 1:29 a.m.
Panel Version: 0.829
There is a well established gene-disease association for ALG2 and congenital myasthenia. The association with CDG has been reported in one family only.
Created: 28 Jan 2020, 9:41 a.m. | Last Modified: 28 Jan 2020, 9:41 a.m.
Panel Version: 0.1733

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228
  • Congenital disorder of glycosylation, type Ii, MIM# 607906
OMIM
607905
Clinvar variants
Variants in ALG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg2 has been classified as Red List (Low Evidence).

30 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG2 were changed from ALG2-CDG to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906

30 Nov 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG2 were set to

30 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg2 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG2 was added gene: ALG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to ALG2-CDG