Ataxia - paediatric
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
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is not a reported feature of this condition.
Sources: OtherCreated: 16 Jan 2020, 4:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 9, 615809
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not convinced ataxia is a major feature of this condition.Created: 27 Dec 2019, 4:05 a.m. | Last Modified: 27 Dec 2019, 4:05 a.m.
Panel Version: 0.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 9, MIM#615809
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Expert Review Red
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pontocerebellar hypoplasia, type 9, 615809
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- None
- 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
16 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ampd2 has been classified as Red List (Low Evidence).
16 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AMPD2 was added gene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 Review for gene: AMPD2 was set to RED