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| Ataxia and cerebellar anomalies - narrow panel v2.182 | TSEN54 | Arina Puzriakova Publications for gene: TSEN54 were set to PMID: 20956791; PMID: 18711368; PMID: 20952379; PMID: 21368912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.181 | TSEN54 | Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar Hypoplasia type 2A; Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753); Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar Hypoplasia type 4; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 5 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | TSEN54 | Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) for gene: TSEN54 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | TSEN54 |
Ellen McDonagh gene: TSEN54 was added gene: TSEN54 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN54 were set to PMID: 20956791; PMID: 18711368; PMID: 20952379; PMID: 21368912 Phenotypes for gene: TSEN54 were set to Pontocerebellar Hypoplasia type 2A; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar Hypoplasia type 4; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 5 |
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