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Genetic Epilepsy

Gene: MFSD8

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

No genotype-phenotype correlation, though there is some speculation that residual enzyme activity that is sufficient for all organs except the eye results in nonsyndromic eye disease (OMIM).

The same genotype can result in either vLINCL or nonsyndromic CCMD (PMID:31006324).
Created: 17 Apr 2020, 4:42 a.m. | Last Modified: 17 Apr 2020, 4:42 a.m.
Panel Version: 0.2301

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170

Publications

Created: 17 Apr 2020, 4:42 a.m.
Last Modified: 17 Apr 2020, 4:42 a.m.
Panel version: Imported from Mendeliome panel version 0.2301

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: 0.355

History Filter Activity

24 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfsd8 has been classified as Green List (High Evidence).

24 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfsd8 has been classified as Green List (High Evidence).

24 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: MFSD8 was added gene: MFSD8 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFSD8 were set to 30249282; 30144815; 30301600; 28586915 Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951 Review for gene: MFSD8 was set to GREEN gene: MFSD8 was marked as current diagnostic