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DDG2P

Gene: MMS19

Red List (low evidence)
MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component)
EnsemblGeneIds (GRCh38): ENSG00000155229
EnsemblGeneIds (GRCh37): ENSG00000155229
OMIM: 614777, Gene2Phenotype
MMS19 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MMS19-related dihydropyrimidine dehydrogenase deficiency are limited, biallelic_autosomal and undetermined (PMID:38411040). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03767.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MMS19-related dihydropyrimidine dehydrogenase deficiency

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • MMS19-related dihydropyrimidine dehydrogenase deficiency
OMIM
614777
Clinvar variants
Variants in MMS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MMS19 was added gene: MMS19 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMS19 were set to 38411040 Phenotypes for gene: MMS19 were set to MMS19-related dihydropyrimidine dehydrogenase deficiency