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Congenital Myasthenia
Gene: ALG2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, same, likely founder variant. Note there is another individual reported with a multi-system CDG disorder, no mention of myasthenia.
Created: 23 Oct 2020, 6:07 a.m. | Last Modified: 23 Oct 2020, 6:07 a.m.

Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228

Publications

Created: 23 Oct 2020, 6:07 a.m.
Last Modified: 23 Oct 2020, 6:07 a.m.
Panel version: 0.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228

Tags

founder

OMIM

Clinvar variants

Variants in ALG2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: ALG2.

23 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg2 has been classified as Amber List (Moderate Evidence).

23 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG2 were set to

23 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg2 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALG2 was added gene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228