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STRs in panel
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Inborn errors of metabolism

Gene: LDHA

Green List (high evidence)

LDHA (lactate dehydrogenase A)
EnsemblGeneIds (GRCh38): ENSG00000134333
EnsemblGeneIds (GRCh37): ENSG00000134333
OMIM: 150000, Gene2Phenotype
LDHA is in 8 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
  • Muscle LDH deficiency (Glycogen storage disorders)
OMIM
150000
Clinvar variants
Variants in LDHA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LDHA. Source London North GLH was added to LDHA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LDHA was added gene: LDHA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHA were set to 27604308 Phenotypes for gene: LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933; Muscle LDH deficiency (Glycogen storage disorders)