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| Brain Calcification v1.90 | ZBTB20 | Zornitza Stark Marked gene: ZBTB20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.90 | ZBTB20 | Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.90 | ZBTB20 | Zornitza Stark Classified gene: ZBTB20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.90 | ZBTB20 | Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.89 | ZBTB20 |
Yetong Chen gene: ZBTB20 was added gene: ZBTB20 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB20 were set to 32734340; 25017102 Phenotypes for gene: ZBTB20 were set to Primrose syndrome, MIM# 259050 Review for gene: ZBTB20 was set to GREEN Added comment: PMID 32266967 reports 4 patients (1, 2, 22 and 24) with different ZBTB20 variants (p.Gln209Arg, p.Cys580Tyr, p.His624Pro, and p.Met625Val) who had brain calcifications. PMID reports 3 patients (11D5135, 12D6966 and PRS_02) with different ZBTB20 variants (p.T601I, p.G602A and p.V626M) who had intracranial calcification. Sources: Expert list |
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