Regression
Gene: MMS19

MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component)
EnsemblGeneIds (GRCh38): ENSG00000155229
EnsemblGeneIds (GRCh37): ENSG00000155229
OMIM: 614777, Gene2Phenotype
MMS19 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 8 Mar 2024, 2:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegenerative disease, MONDO:0005559, MMS19-related

Publications

38411040

Created: 8 Mar 2024, 2:53 a.m.

Panel version: 0.545

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Neurodegenerative disease, MONDO:0005559, MMS19-related

OMIM

614777

Clinvar variants

Variants in MMS19

Penetrance

None

Publications

38411040

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

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