Hereditary neuropathy or pain disorder
Gene: AMPD2EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
AMPD2 variants have been associated with Pontocerebellar hypoplasia, type 9, OMIM:615809. PMID: 27066553 reports a consanguineous family, where the surviving affected siblings were homozygous for NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter) and developed axonal neuropathy in the second decade. The variant segregated within the family and was heterozygous in the unaffected parents and two of the unaffected siblings.Created: 22 Oct 2024, 4:44 p.m. | Last Modified: 22 Oct 2024, 4:44 p.m.
Panel Version: 5.62
Alexander Rossor (UCL Institute of Neurology)
Neuropathy in two individuals
Sources: Expert listCreated: 15 Oct 2024, 10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pontocerebellar hypoplasia, axonal neuropathy,
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pontocerebellar hypoplasia, type 9, OMIM:615809
- pontocerebellar hypoplasia type 9, MONDO:0014351
- OMIM
- 102771
- Clinvar variants
- Variants in AMPD2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Cerebellar hypoplasia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AMPD2 were changed from pontocerebellar hypoplasia, axonal neuropathy, to Pontocerebellar hypoplasia, type 9, OMIM:615809; pontocerebellar hypoplasia type 9, MONDO:0014351
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ampd2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alexander Rossor (UCL Institute of Neurology)gene: AMPD2 was added gene: AMPD2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 27066553 Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia, axonal neuropathy, Review for gene: AMPD2 was set to AMBER