Inherited phaeochromocytoma and paraganglioma
Gene: MDH2EnsemblGeneIds (GRCh38): ENSG00000146701
EnsemblGeneIds (GRCh37): ENSG00000146701
OMIM: 154100, Gene2Phenotype
MDH2 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on publications: Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J. Natl. Cancer Inst. J Natl Cancer Inst 2015 May 11;107(5). Epub 2015 Mar 11.Created: 26 Jan 2021, 3:47 p.m. | Last Modified: 26 Jan 2021, 3:47 p.m.
Panel Version: 1.6
Ellen Thomas (Genomics England Curator)
Comment on list classification: Only reported in one patient. Likely to be disease-causing from functional studies but need to await further evidence before including on the panel.Created: 20 Apr 2016, 3:35 p.m.
Louise IZATT (GSTT Clinical Genetics Service)
ADCreated: 17 Mar 2016, 8:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Paraganglioma syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- PGL
- OMIM
- 154100
- Clinvar variants
- Variants in MDH2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MDH2 were set to Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J. Natl. Cancer Inst. J Natl Cancer Inst 2015 May 11; 107(5). Epub 2015 Mar 11.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Louise IZATT (GSTT Clinical Genetics Service)MDH2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Literature
Created
Louise IZATT (GSTT Clinical Genetics Service)MDH2 was created by lizatt