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Regression v0.535 | CAPRIN1 | Zornitza Stark Marked gene: CAPRIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.535 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.535 | CAPRIN1 | Zornitza Stark Classified gene: CAPRIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.535 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.534 | CAPRIN1 | Zornitza Stark edited their review of gene: CAPRIN1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.534 | CAPRIN1 |
Zornitza Stark gene: CAPRIN1 was added gene: CAPRIN1 was added to Regression. Sources: Expert Review Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAPRIN1 were set to 36136249 Phenotypes for gene: CAPRIN1 were set to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Review for gene: CAPRIN1 was set to GREEN Added comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course with onset in childhood. Another 12 individuals reported in previous publications with ID/SZ. Sources: Expert Review |