Rhabdomyolysis and metabolic muscle disorders

Gene: AMPD1

Red List (low evidence)

AMPD1 (adenosine monophosphate deaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000116748
EnsemblGeneIds (GRCh37): ENSG00000116748
OMIM: 102770, Gene2Phenotype
AMPD1 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: 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: 2 Dec 2016, 9:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Rhabdomyolysis
  • Myopathy due to myoadenylate deaminase deficiency 615511
OMIM
102770
Clinvar variants
Variants in AMPD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

2 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AMPD1 were set to 25929793; 15803807; 23543093; 19258857

1 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AMPD1 were set to 25929793

24 Nov 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

AMPD1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene AMPD1 were set to Rhabdomyolysis; Myopathy due to myoadenylate deaminase deficiency 615511

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AMPD1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory