Hereditary ataxia with onset in adulthood
Gene: AMPD2EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Comment on phenotypes: Spastic paraplegia 63 OMIM:615686 from homozygous frameshift reported in single family (Novarino et al, 2014).Created: 26 May 2021, 8:14 a.m. | Last Modified: 26 May 2021, 8:14 a.m.
Panel Version: 2.61
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with congenital onset of ataxia.Created: 26 May 2021, 8:09 a.m. | Last Modified: 26 May 2021, 8:09 a.m.
Panel Version: 2.60
Zornitza Stark (Australian Genomics)
Congenital onset.Created: 13 Sep 2020, 8:21 a.m. | Last Modified: 13 Sep 2020, 8:21 a.m.
Panel Version: 2.9
Phenotypes
Pontocerebellar hyoplasia 9, 615809
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Biallelic loss of function variants reported in multiple familiesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hyoplasia 9, 615809
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Pontocerebellar hyoplasia 9 OMIM:615809
- pontocerebellar hypoplasia type 9 MONDO:0014351
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Early onset or syndromic epilepsy
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: AMPD2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809 to Pontocerebellar hyoplasia 9 OMIM:615809; pontocerebellar hypoplasia type 9 MONDO:0014351
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809; Pontocerebellar hypoplasia 9 (#615809); Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). to Pontocerebellar hyoplasia 9, 615809
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: AMPD2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hyoplasia 9, 615809 for gene: AMPD2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AMPD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to AMPD2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: AMPD2 was added gene: AMPD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 24482476 Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)