Inherited phaeochromocytoma and paraganglioma
Gene: MDH2Comment 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
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.
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
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
MDH2 was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Literature
MDH2 was created by lizatt