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Intellectual disability syndromic and non-syndromic

Gene: AMPD2

Green List (high evidence)

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, 1:58 a.m. | Last Modified: 18 Sep 2021, 1:58 a.m.
Panel Version: 0.4123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 9, MIM#615809

Publications

History Filter Activity

18 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ampd2 has been classified as Green List (High Evidence).

18 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809

18 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AMPD2 were set to

18 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AMPD2 was added gene: AMPD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AMPD2 was set to Unknown