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| Ataxia and cerebellar anomalies - narrow panel v0.5 | AMPD2 |
Ellen McDonagh Added phenotypes Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809) for gene: AMPD2 Publications for gene AMPD2 were changed from Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809; 27066553; 23911318 to PMID: 24482476 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | AMPD2 |
Ellen McDonagh gene: AMPD2 was added gene: AMPD2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809; 27066553; 23911318 Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9, 615809 |
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