| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.66 | GATA3 | Zornitza Stark Marked gene: GATA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.66 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.66 | GATA3 | Zornitza Stark Classified gene: GATA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.66 | GATA3 | Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | GATA3 |
Yetong Chen gene: GATA3 was added gene: GATA3 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA3 were set to 32642802; 19248180; 26268891; 16912130; 15337474 Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Review for gene: GATA3 was set to GREEN Added comment: PMID 19248180 reports a patient with a GATA3 variant who developed basal ganglia calcification. PMID 26268891 reports a patient with a GATA3 variant who developed multiple intracranial calcifications. PMID 16912130 reports a patient with a GATA3 variant who developed basal ganglia calcification. PMID 15337474 reports a patient with a chromosome 10p deletion, where the GATA3 gene is located, who developed basal ganglia calcification. Sources: Expert list |
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