Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: MDH2

MDH2 (malate dehydrogenase 2)
EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 10 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Created: 29 May 2024, 12:35 p.m. | Last Modified: 29 May 2024, 12:37 p.m.

Panel Version: 2.8

Created: 29 May 2024, 12:35 p.m.
Last Modified: 29 May 2024, 12:37 p.m.
Panel version: 2.8

Terri McVeigh (Royal Marsden NHS Foundation Trust)

Red List (low evidence)

Discussed at UKCGG/cancer leads meeting 06/07/2023; agreed insufficient information regarding penetrance/management to justify inclusion on diagnostic panel
Created: 26 Oct 2023, 9:39 a.m. | Last Modified: 26 Oct 2023, 9:39 a.m.

Panel Version: 2.2

Created: 26 Oct 2023, 9:39 a.m.
Last Modified: 26 Oct 2023, 9:39 a.m.
Panel version: 2.2

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review.
Created: 6 Nov 2023, 2:30 p.m. | Last Modified: 6 Nov 2023, 2:30 p.m.

Panel Version: 2.6

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 2:18 p.m. | Last Modified: 3 Mar 2022, 2:18 p.m.

Panel Version: 1.21

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

Created: 28 Jan 2021, 1:17 p.m.

Panel version: 2.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Removed
Expert Review

Phenotypes

PPGL
pheochromocytoma-paraganglioma, MONDO:0035540

Tags

curated_removed

OMIM

154100

Clinvar variants

Variants in MDH2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 May 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed tag was added to gene: MDH2.

29 May 2024, Gel status: 0

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_demote_red was removed from gene: MDH2. Tag Q4_23_NHS_review was removed from gene: MDH2. Tag Q4_23_expert_review was removed from gene: MDH2.

29 May 2024, Gel status: 0

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Removed was added to MDH2. Rating Changed from Green List (high evidence) to No List (delete)

6 Nov 2023, Gel status: 3