1. Panels
  2. Intellectual disability
  3. MDH2
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: MDH2

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

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 12:10 p.m.
Created: 5 Mar 2018, 12:10 p.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.302

Eleanor Williams (Genomics England Curator)

Comment on list classification: MDH2 association with Epileptic encephalopathy, early infantile, 51 reported in 3 unrelated cases (PMID: 27989324). Psychomotor delay appears to be from early on and not progressive.
Created: 1 Mar 2018, 3:07 p.m.
Created: 28 Feb 2018, 9:16 a.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.149

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017 . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 7:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 8:22 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 1:15 p.m.
Created: 28 Jul 2017, 1:15 p.m.

Panel version: 1.297

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Ivone Leong (Genomics England Curator)

Source: Expert Review Amber was removed from gene: MDH2

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MDH2 were set to Epileptic encephalopathy, early infantile, 51, 617339

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to MDH2. Panel: Intellectual disability Publications for gene MDH2 was set to ['27989324']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MDH2 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

MDH2 was created by BRIDGE