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  2. Rhabdomyolysis and Metabolic Myopathy
  3. LDHA
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Rhabdomyolysis and Metabolic Myopathy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, small CNVs reported.
Created: 6 Mar 2021, 6:30 a.m. | Last Modified: 6 Mar 2021, 6:30 a.m.
Panel Version: 0.6608

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XI, MIM# 612933

Publications

Created: 6 Mar 2021, 6:30 a.m.
Last Modified: 6 Mar 2021, 6:30 a.m.
Panel version: Imported from Mendeliome panel version 0.6608

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XI, MIM# 612933
OMIM
150000
Clinvar variants
Variants in LDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: LDHA were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LDHA was added gene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,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