| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.248 | MORC2 | Zornitza Stark Marked gene: MORC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.248 | MORC2 | Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.248 | MORC2 | Zornitza Stark Classified gene: MORC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.248 | MORC2 | Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.247 | MORC2 |
Zornitza Stark gene: MORC2 was added gene: MORC2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 28402445 Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688; Cerebellar ataxia Review for gene: MORC2 was set to GREEN Added comment: The p.Thr362Arg variant has been reported as a de novo event in unrelated families with cerebellar ataxia in addition to CMT and nocturnal hypoventilation. Sources: Expert list |
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