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Ataxia - paediatric v0.70 | TMEM231 | Zornitza Stark Marked gene: TMEM231 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.70 | TMEM231 | Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.70 | TMEM231 | Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.69 | TMEM231 | Zornitza Stark Classified gene: TMEM231 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.69 | TMEM231 | Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.68 | TMEM231 | Zornitza Stark reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.0 | TMEM231 |
Bryony Thompson gene: TMEM231 was added gene: TMEM231 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 |