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Newborns main panel

Gene: GLA

Amber List (moderate evidence)
GLA (galactosidase alpha)
EnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels

1 review

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
Curated in clingen:https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z?page=1&size=25&search=
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Mafalda Gomes comment: The clinical manifestations in heterozygous females range from asymptomatic throughout a normal life span to as severe as affected males. Variation in clinical manifestations is attributed to random X-chromosome inactivation [Deegan et al 2006]. More severely affected females are more likely to express the X chromosome with the GLA pathogenic variant in affected organs [Echevarria et al 2016]. Most heterozygous females from families in which affected males have the classic phenotype have a milder clinical course and better prognosis than affected males.
David Comment: With respect to GLA it is clear that males can present by age 5. https://pubmed.ncbi.nlm.nih.gov/20301469/ Looking at females they are discovered and treatment started as adults – PMID: 30413388. Some females will present early due to skewed x-inactivation but overall I think we are best to put this in the XLR column.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 27 Mar 2023, 9:58 a.m.
Panel Version: 0.45

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Fabry Disease

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 27 Mar 2023, 9:58 a.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GLA. Added phenotypes Fabry Disease for gene: GLA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 GLA. Added phenotypes Fabry Disease for gene: GLA 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 GLA. Added phenotypes Fabry Disease for gene: GLA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GLA. Added phenotypes Fabry Disease for gene: GLA Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fabry Disease for gene: GLA

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GLA was added gene: GLA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)