Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: MDH2
Discussed at UKCGG/cancer leads meeting 06/07/2023; agreed insufficient information regarding penetrance/management to justify inclusion on diagnostic panelCreated: 26 Oct 2023, 9:39 a.m. | Last Modified: 26 Oct 2023, 9:39 a.m.
Panel Version: 2.2
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 ReviewCreated: 28 Jan 2021, 1:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPGL
Publications
Tag Q4_23_demote_red tag was added to gene: MDH2.
Tag Q4_23_NHS_review tag was added to gene: MDH2. Tag Q4_23_expert_review tag was added to gene: MDH2.
Phenotypes for gene: MDH2 were changed from PPGL to PPGL; pheochromocytoma-paraganglioma, MONDO:0035540
Tag for-review was removed from gene: MDH2.
Source Expert Review Green was added to MDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mdh2 has been classified as Amber List (Moderate Evidence).
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