Ataxia and cerebellar anomalies - narrow panel
Gene: AMPD2EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
- pontocerebellar hypoplasia type 9, 615809
- Pontocerebellar hypoplasia 9 (#615809)
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- None
- Publications
-
- PMID: 24482476
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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