Acute rhabdomyolysis

Gene: AMPD1

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.

Created: 20 Mar 2026, 2:57 p.m. | Last Modified: 20 Mar 2026, 2:57 p.m.

Panel Version: 2.7

Comment on list classification: This gene was promoted to Green and added to the diagnostic panel, however as per review by Zornitza Stark (below), it has since come to light that several variants reported in patients have a high frequency in the general population, calling into question their pathogenicity. Hence, tagging for GMS expert review to determine whether this gene should be demoted on this panel.


Copied from Zornitza Stark (Australian Genomics) review on Rhabdomyolysis and metabolic muscle disorders (66) panel (v3.35):

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: 31 Jul 2025, 1:14 p.m. | Last Modified: 31 Jul 2025, 1:14 p.m.

Panel Version: 2.2

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.

Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.

Panel Version: 0.6