1. Genes and Genomic Entities
  2. LDHA

LDHA

lactate dehydrogenase A
OMIM: 150000, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green LDHA in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
Green LDHA in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Glycogen storage disease XI 612933
    Green LDHA in Glycogen storage disease


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XI 612933
    Green LDHA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscle LDH deficiency (Glycogen storage disorders)
    • Glycogen Storage Disease
    • Glycogen storage disease XI, 612933
    Green LDHA in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glycogen Storage Disease
    • Glycogen storage disease XI, 612933
    • Muscle LDH deficiency (Glycogen storage disorders)
    Red LDHA in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green LDHA in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycogen storage disease XI, 612933
    Green LDHA in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XI, OMIM:612933