Hereditary spastic paraplegia
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
3 reviews
Louise Daugherty (Genomics England Curator)
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:14 a.m.
Chris Buxton (North Bristol NHS Trust)
nonsense variant in single family in exome study. Low evidenceCreated: 27 Nov 2018, 9:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paprplegia
Publications
emma baple (Genomics England Curator)
Comment when marking as ready: Single family only - more evidence requiredCreated: 8 Feb 2016, 11:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Pontocerebellar hypolplasia (biallelic)
- Hereditary Spastic Paraplegia?
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- Complete
- Publications
-
- Novarino et al. (2014)
- Panels with this gene
-
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
8 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Feb 2016, Gel status: 0
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?
20 Jul 2015, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AMPD2 was changed to BIALLELIC, autosomal or pseudoautosomal
20 Jul 2015, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AMPD2 was changed to BIALLELIC, autosomal or pseudoautosomal
20 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AMPD2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list