Rhabdomyolysis and metabolic muscle disorders
Gene: AMPD1
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:41 a.m.
Panel Version: 3.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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).
The observation of a high number of homozygotes in gnomad together with the absence of new reports raises significant concerns about the pathogenicity of these variants.Created: 1 Sep 2023, 9:28 a.m. | Last Modified: 1 Sep 2023, 9:28 a.m.
Panel Version: 3.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency (MIM#615511)
Publications
Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.Created: 23 Aug 2023, 11:01 a.m. | Last Modified: 23 Aug 2023, 11:01 a.m.
Panel Version: 3.8
This gene has been associated with metabolic myopathy in OMIM (MIM #615511) and OMIM reports that rhabdomyolysis is seen in some patients.Created: 23 Aug 2023, 10:57 a.m. | Last Modified: 23 Aug 2023, 10:57 a.m.
Panel Version: 3.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy due to myoadenylate deaminase deficiency, OMIM:615511
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 apparantCreated: 2 Dec 2016, 9:47 a.m.
Tag Q3_23_promote_green was removed from gene: AMPD1. Tag Q3_23_NHS_review was removed from gene: AMPD1.
Source Expert Review Green was added to AMPD1. Source NHS GMS was added to AMPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_23_NHS_review tag was added to gene: AMPD1.
Tag Q3_23_promote_green tag was added to gene: AMPD1.
Gene: ampd1 has been classified as Amber List (Moderate Evidence).
Panel promoted to V1 4th January 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for AMPD1 were set to 25929793; 15803807; 23543093; 19258857
Publications for AMPD1 were set to 25929793
AMPD1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene AMPD1 were set to Rhabdomyolysis; Myopathy due to myoadenylate deaminase deficiency 615511
AMPD1 was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory