Rhabdomyolysis and metabolic muscle disordersGene: LDHA
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease XI
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One 20-bp deletion variant in exon 6 reported in 18 persons from the 4 known affected families in Japan
Created: 5 Dec 2016, 11:04 a.m.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for LDHA were set to 27604308; 1953713
LDHA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene LDHA were set to Glycogen storage disease XI 612933
LDHA was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
LDHA was created by sleigh