Cerebellar hypoplasia
Gene: AMPD2
Confirmed DD gene on G2P. Offered as diagnostic test on UKGTN. Mutations identified in at least 6 familiesCreated: 3 Nov 2016, 9:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pontocerebellar hypoplasia type 9, 615809
Publications
22/02/2017: Panel revised after internal clinical review and further curation.
Phenotypes for AMPD2 were set to pontocerebellar hypoplasia type 9, 615809
Publications for 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 ; 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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other,UKGTN,Radboud University Medical Center, Nijmegen
AMPD2All sources for gene: AMPD2 were removed
AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other,UKGTN,Radboud University Medical Center, Nijmegen
This gene has been classified as Amber List (Moderate Evidence).
AMPD2 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen
AMPD2 was added to Cerebellar hypoplasiapanel. Source: UKGTN
AMPD2 was added to Cerebellar hypoplasiapanel. Sources: Literature,Other
AMPD2 was created by helen.savage