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  3. AMPD3
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Nucleotide metabolism disorders

Gene: AMPD3

Red List (low evidence)
AMPD3 (adenosine monophosphate deaminase 3)
EnsemblGeneIds (GRCh38): ENSG00000133805
EnsemblGeneIds (GRCh37): ENSG00000133805
OMIM: 102772, Gene2Phenotype
AMPD3 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinically asymptomatic.
Created: 6 Apr 2022, 6:42 a.m. | Last Modified: 6 Apr 2022, 6:42 a.m.
Panel Version: 0.12574

Phenotypes
[AMP deaminase deficiency, erythrocytic] MIM#612874

Created: 6 Apr 2022, 6:42 a.m.
Last Modified: 6 Apr 2022, 6:42 a.m.
Panel version: Imported from Mendeliome panel version 0.12574

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 8004104 - 2 homozygous patients within a Japanese cohort. Complete deficiency in erythrocyte AMP deaminase detected, variant (p.R573C) has no homozygotes in gnomAD.

PMID: 11139257 - chet (missense x2) Japanese patient with erythrocyte AMP deaminase deficiency. Both variants were transfected into bacteria and functionally proven to be enzymatically defective compared to WT.

PMID: 24940686 - K/O mouse model shows reduced enzyme activity, with other enzymes involved in nucleotide metabolism unaffected. No other physiological changes described.

No homozygous PTCs in gnomAD
Created: 4 Apr 2022, 5:01 a.m. | Last Modified: 4 Apr 2022, 5:01 a.m.
Panel Version: 0.12533

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[AMP deaminase deficiency, erythrocytic] MIM#612874

Publications

Created: 4 Apr 2022, 5:01 a.m.
Last Modified: 4 Apr 2022, 5:01 a.m.
Panel version: Imported from Mendeliome panel version 0.12533

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • adenosine monophosphate deaminase deficiency MONDO:0013028
OMIM
102772
Clinvar variants
Variants in AMPD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AMPD3 was added gene: AMPD3 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD3 were set to 8004104; 24940686; 11139257 Phenotypes for gene: AMPD3 were set to adenosine monophosphate deaminase deficiency MONDO:0013028