| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.68 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.68 | GLA | Zornitza Stark Gene: gla has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.68 | GLA | Zornitza Stark Classified gene: GLA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.68 | GLA | Zornitza Stark Gene: gla has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | GLA |
Yetong Chen gene: GLA was added gene: GLA was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GLA were set to 32734340; 24372060; 30532363 Phenotypes for gene: GLA were set to Fabry disease, MIM# 301500 Review for gene: GLA was set to AMBER Added comment: PMID 17224688 suggests Fabry disease should not be considered an X-linked recessive disorder since women carrying heterozygous GLA variants may experience significant life-threatening conditions. The association between brain calcification and Fabry disease is well-established. However, no cases with GLA variants that developed brain calcification are reported in the literature. Sources: Expert list |
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