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Mendeliome

Gene: MDH1

Amber List (moderate evidence)

MDH1 (malate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000014641
EnsemblGeneIds (GRCh37): ENSG00000014641
OMIM: 154200, Gene2Phenotype
MDH1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data.
Sources: Literature
Created: 10 Jan 2020, 6:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • epilepsy
  • microcephaly
  • intellectual disability
  • Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959
OMIM
154200
Clinvar variants
Variants in MDH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdh1 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mdh1 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MDH1 was added gene: MDH1 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDH1 were set to 31538237 Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability Review for gene: MDH1 was set to AMBER