Hereditary ataxia
Gene: AMPD2
AMPD2 (adenosine monophosphate deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: good evidenceCreated: 11 Jul 2016, 4:48 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. PCH9 good evidence in litCreated: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 9 (#615809); Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
Publications
- PMID: 24482476
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia 9 (#615809)
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- Complete
- Publications
-
- PMID: 24482476
- Panels with this gene
-
- Hereditary ataxia, adult onset
- Hereditary ataxia
- DDG2P
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, adult onset
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia, childhood onset
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)AMPD2 was created by jonathan.williams
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)AMPD2 was added to Hereditary ataxiapanel. Sources: Expert Review