Nucleotide metabolism disorders
Gene: AMPD1
AMPD1 (adenosine monophosphate deaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000116748
EnsemblGeneIds (GRCh37): ENSG00000116748
OMIM: 102770, Gene2Phenotype
AMPD1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000116748
EnsemblGeneIds (GRCh37): ENSG00000116748
OMIM: 102770, Gene2Phenotype
AMPD1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variable age of onset ranging from infancy to adulthood (OMIM), however, no new publications supporting gene disease association. PMID: 21343608: Reported an infancy presenting with congenital hypotonia and muscle weakness. Variant reported in as VUS in ClinVar (as Q45*) and present in gnomad (1470 homozygotes) PMID: 11102975: Adult patient reported however variants reported R425H (also R458H) present in gnomad (3 homozygotes) and R388W (also R421W) present in gnomad (2 homozygotes)Created: 17 Jun 2020, 6:38 a.m. | Last Modified: 17 Jun 2020, 6:38 a.m.
Panel Version: 0.3090
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency (MIM#615511)
Publications
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
- 102770
- Clinvar variants
- Variants in AMPD1
- 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: AMPD1 was added gene: AMPD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27296017; 21343608 Phenotypes for gene: AMPD1 were set to adenosine monophosphate deaminase deficiency MONDO:0013028