Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 MFSD8 Rebecca Foulger Source Wessex and West Midlands GLH was added to MFSD8.
Early onset or syndromic epilepsy v1.190 MFSD8 Rebecca Foulger Source NHS GMS was added to MFSD8.
Early onset or syndromic epilepsy v1.189 MFSD8 Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Marked gene: MFSD8 as ready
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.
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Classified gene: MFSD8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.682 MFSD8 Sarah Leigh Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.681 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951
Early onset or syndromic epilepsy v0.680 MFSD8 Sarah Leigh Publications for gene: MFSD8 were set to
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty edited their review of gene: MFSD8: Changed publications: 30249282, 30144815, 30301600, 28586915
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
Early onset or syndromic epilepsy MFSD8 Sarah Leigh Added gene to panel