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Newborns main panel

Gene: GAA

Green List (high evidence)
GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Only want to report infantile onset/severe cases. Well established genotype data (see Erasmus database: https://www.pompevariantdatabase.nl/pompe_mutations_list.php?orderby=aMut_ID1) Combination of variants can predict severity. From BIMDG: Target population is those with Infantile Onset Pompe Disease. Undesirable to report those predicted to have adult-presenting Late Onset Pompe Disease who will be asymptomatic during childhood and into adulthood and who would not need intervention until symptomatic. Consider NVD if uncertain whether to report variant(s).
Created: 26 Sep 2024, 1:25 p.m. | Last Modified: 26 Sep 2024, 1:25 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Lysosomal Diseases Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50009/
Created: 26 Sep 2024, 1:24 p.m. | Last Modified: 26 Sep 2024, 1:24 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 1:24 p.m.
Last Modified: 26 Sep 2024, 1:24 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
https://search.clinicalgenome.org/kb/genes/HGNC:4065
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

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: GAA.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GAA were changed from Glycogen storage disease II to Glycogen storage disease type II

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease II for gene: GAA

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: GAA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene GAA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Glycogen storage disease II for gene: GAA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease II for gene: GAA

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease II for gene: GAA

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease II for gene: GAA

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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