Nucleotide metabolism disorders
Gene: AMPD2

AMPD2 (adenosine monophosphate deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Clinical features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.
Created: 18 Sep 2021, 1:57 a.m. | Last Modified: 18 Sep 2021, 1:57 a.m.

Panel Version: 0.9186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 9, MIM#615809

Publications

Created: 27 Dec 2019, 4:05 a.m.
Last Modified: 27 Dec 2019, 4:05 a.m.
Panel version: Imported from Mendeliome panel version 0.9186

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

pontocerebellar hypoplasia type 9 MONDO:0014351
Disorders of purine metabolism

OMIM

102771

Clinvar variants

Variants in AMPD2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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 Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 27066553; 23911318 Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9 MONDO:0014351; Disorders of purine metabolism

Nucleotide metabolism disorders Gene: AMPD2