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Genetic Epilepsy

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 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development.
Sources: Literature
Created: 7 Mar 2024, 5:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuromuscular disease, MMS19-related (MONDO:0019056)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Mar 2024, 5:31 a.m.

Panel version: 0.2331

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related
OMIM
614777
Clinvar variants
Variants in MMS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mms19 has been classified as Red List (Low Evidence).

8 Mar 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related

8 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mms19 has been classified as Red List (Low Evidence).

7 Mar 2024, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: MMS19 was added gene: MMS19 was added to Genetic Epilepsy. Sources: Literature 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 Neuromuscular disease, MMS19-related (MONDO:0019056) Review for gene: MMS19 was set to RED gene: MMS19 was marked as current diagnostic