06 Aug 2019
Early onset or syndromic epilepsy v1.191
MFSD8
Rebecca Foulger Source Wessex and West Midlands GLH was added to MFSD8.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
MFSD8
Rebecca Foulger Source NHS GMS was added to MFSD8.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
MFSD8
Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
MFSD8
Tracy Lester reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
12 Nov 2018
Early onset or syndromic epilepsy v0.683
MFSD8
Sarah Leigh Marked gene: MFSD8 as ready
12 Nov 2018
Early onset or syndromic epilepsy v0.683
MFSD8
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in cases of Ceroid lipofuscinosis, neuronal, 7 610951 with seizures.
12 Nov 2018
Early onset or syndromic epilepsy v0.683
MFSD8
Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.683
MFSD8
Sarah Leigh Classified gene: MFSD8 as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.683
MFSD8
Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.682
MFSD8
Sarah Leigh Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Nov 2018
Early onset or syndromic epilepsy v0.681
MFSD8
Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951
12 Nov 2018
Early onset or syndromic epilepsy v0.680
MFSD8
Sarah Leigh Publications for gene: MFSD8 were set to
23 Oct 2018
Early onset or syndromic epilepsy v0.507
MFSD8
Louise Daugherty edited their review of gene: MFSD8: Changed publications: 30249282, 30144815, 30301600, 28586915
23 Oct 2018
Early onset or syndromic epilepsy v0.507
MFSD8
Louise Daugherty reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28586915; Phenotypes: MFSD8-related neuronal ceroid lipofuscinosis, CLN7 disease, late infantile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Apr 2018
Early onset or syndromic epilepsy
MFSD8
Sarah Leigh Added gene to panel