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| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Marked gene: EXOSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.195 | EXOSC2 |
Zornitza Stark gene: EXOSC2 was added gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 26843489; 31628467 Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Review for gene: EXOSC2 was set to GREEN Added comment: Three individuals from two families, but founder mutation, some functional data. Sources: Expert list |
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