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| Brain Calcification v2.2 | RRP12 | Zornitza Stark Phenotypes for gene: RRP12 were changed from Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications to Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v2.1 | RRP12 | Zornitza Stark reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.100 | RRP12 | Zornitza Stark Marked gene: RRP12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.100 | RRP12 | Zornitza Stark Gene: rrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.100 | Zornitza Stark Copied gene RRP12 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.100 | RRP12 |
Zornitza Stark gene: RRP12 was added gene: RRP12 was added to Brain Calcification. Sources: Expert Review Amber,Literature Mode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRP12 were set to PMID: 41059649 Phenotypes for gene: RRP12 were set to Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications Penetrance for gene: RRP12 were set to unknown |
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