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Prepair 1000+

Gene: LDHA

Green List (high evidence)

LDHA (lactate dehydrogenase A)
EnsemblGeneIds (GRCh38): ENSG00000134333
EnsemblGeneIds (GRCh37): ENSG00000134333
OMIM: 150000, Gene2Phenotype
LDHA is in 5 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The clinical presentation of LDHA deficiency is characterised by exercise intolerance, with cramps, myalgia, and myoglobinuria due to rhabdomyolysis after strenuous exercise. Myoglobinuria may lead to acute renal failure (PMID: 36292720).

Onset in childhood; symptoms are induced by strenuous exercise (OMIM).
Created: 9 Jan 2025, 5:55 a.m. | Last Modified: 9 Jan 2025, 5:55 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XI MIM#612933

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease XI MIM#612933
OMIM
150000
Clinvar variants
Variants in LDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ldha has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LDHA were changed from Glycogen storage disease XI, 612933 (3) to Glycogen storage disease XI MIM#612933

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LDHA were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LDHA was added gene: LDHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)