Activity
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5 actions
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Cerebellar and Pontocerebellar Hypoplasia v0.135 | ROBO3 | Zornitza Stark Marked gene: ROBO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebellar and Pontocerebellar Hypoplasia v0.135 | ROBO3 | Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebellar and Pontocerebellar Hypoplasia v0.135 | ROBO3 | Zornitza Stark Classified gene: ROBO3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebellar and Pontocerebellar Hypoplasia v0.135 | ROBO3 | Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebellar and Pontocerebellar Hypoplasia v0.113 | ROBO3 |
Crystle Lee gene: ROBO3 was added gene: ROBO3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO3 were set to 15105459 Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313) Review for gene: ROBO3 was set to GREEN Added comment: Pontine hypoplasia is a feature of the associated phenotype. PMID: 15105459; Jen 2004: Reported hom variants in 10 patients. Sources: Expert Review |