Ketotic hypoglycaemia

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: After internal feedback, made this gene green.
Created: 14 Jun 2016, 8:58 a.m.

Details

Mode of Inheritance
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
OMIM
150000
Clinvar variants
Variants in LDHA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LDHA were set to 2334430; 1959923; 26067360; 6517049

7 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene LDHA were set to Glycogen Storage Disease; Glycogen storage disease XI, 612933

19 Oct 2015, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene LDHA were set to Glycogen Storage Disease

19 Oct 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

LDHA was added to Ketotic hypoglycaemiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

19 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LDHA was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services