Progressive Myoclonic Epilepsy
Gene: MFSD8

MFSD8 (major facilitator superfamily domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures are a common feature of this neurodegenerative disorder.
Sources: Expert list
Created: 24 Jan 2020, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 7 610951

Publications

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

Created: 24 Jan 2020, 7:43 a.m.

Panel version: Imported from Genetic Epilepsy panel version 0.355

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital
Expert Review Green

Phenotypes

Ceroid lipofuscinosis, neuronal, 7 610951

OMIM

611124

Clinvar variants

Variants in MFSD8

Penetrance

None

Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MFSD8 was added gene: MFSD8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951

Progressive Myoclonic Epilepsy Gene: MFSD8