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  2. Likely inborn error of metabolism
  3. AMPD1
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Likely inborn error of metabolism

Gene: AMPD1

Red List (low evidence)
AMPD1 (adenosine monophosphate deaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000116748
EnsemblGeneIds (GRCh37): ENSG00000116748
OMIM: 102770, Gene2Phenotype
AMPD1 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P / DD. At least 3 variants reported, however, issues raised in the publications about whether other factors are needed for the phenotype to be apparant
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy due to myoadenylate deaminase deficiency 615511

Publications

Created: 23 Feb 2017, 5:11 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Created: 13 Jan 2017, 4:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Myoadenylate deaminase deficiency (Disorders of purine metabolism)
  • Myopathy due to myoadenylate deaminase deficiency 615511
OMIM
102770
Clinvar variants
Variants in AMPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AMPD1. Source London North GLH was added to AMPD1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: AMPD1 was added gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27604308 Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511