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Newborns main panel

Gene: ALG14

Green List (high evidence)
ALG14 (ALG14, UDP-N-acetylglucosaminyltransferase subunit)
EnsemblGeneIds (GRCh38): ENSG00000172339
EnsemblGeneIds (GRCh37): ENSG00000172339
OMIM: 612866, Gene2Phenotype
ALG14 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 1:47 p.m. | Last Modified: 25 Sep 2024, 1:51 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 1:47 p.m.
Last Modified: 25 Sep 2024, 1:51 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34971077 - 7 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 15, without tubular aggregates
Tags
special_consideration
OMIM
612866
Clinvar variants
Variants in ALG14
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ALG14.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates for gene: ALG14

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ALG14. Added phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates for gene: ALG14 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ALG14. Added phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates for gene: ALG14 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ALG14 was added gene: ALG14 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal