Rhabdomyolysis and metabolic muscle disorders
Gene: LDHA

LDHA (lactate dehydrogenase A)
EnsemblGeneIds (GRCh38): ENSG00000134333
EnsemblGeneIds (GRCh37): ENSG00000134333
OMIM: 150000, Gene2Phenotype
LDHA is in 7 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XI

Publications

1959923

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:09 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

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.

Created: 5 Dec 2016, 11:04 a.m.

Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Literature
UKGTN

Phenotypes

Glycogen storage disease XI 612933

OMIM

150000

Clinvar variants

Variants in LDHA

Penetrance

Complete

Publications

Panels with this gene