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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