Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: MDH2

Amber List (moderate evidence)

MDH2 (malate dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases and therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).
Sources: Expert Review
Created: 28 Jan 2021, 1:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PPGL

Publications

History Filter Activity

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mdh2 has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: MDH2 was added gene: MDH2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review for-review tags were added to gene: MDH2. Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH2 were set to 30008476; 25766404 Phenotypes for gene: MDH2 were set to PPGL Review for gene: MDH2 was set to GREEN