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STRs in panel
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Fetal anomalies

Gene: GAA

Green List (high evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 19 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for GLYCOGEN STORAGE DISEASE TYPE II
Created: 11 Dec 2018, 9:05 a.m.

Publications

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GAA was added gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II