Hereditary Spastic Paraplegia - paediatric
Gene: AMPD2EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family with complicated HSP has been reported. Biallelic variants in this gene cause pontocerebellar hypoplasia type 9.Created: 19 Apr 2020, 8:15 a.m. | Last Modified: 19 Apr 2020, 8:15 a.m.
Panel Version: 0.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 63 MIM#615686
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Spastic paraplegia 63 MIM#615686
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Fetal anomalies
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ampd2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AMPD2 were changed from Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR to Spastic paraplegia 63 MIM#615686
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ampd2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AMPD2 was added gene: AMPD2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 24482476; 30089829; 29463858 Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809, AR; Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic); ?Spastic paraplegia 63, 615686, AR