Early onset or syndromic epilepsy

Gene: MFSD8

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR neuronal ceroid lipofuscinosis 7 (CLN7) and AR macular dystrophy with central cone involvment. CLN7 - 6 families (5 Turkish) reported by Topcu et al 2004 & Siintola et al 2007 - 6 diff mutations in the MFSD8 gene. Stogmann et al 2009 - aff individuals in a consang egyptian family - hom variant. Aldahmesh et al, 2009 3 aff individuals in a consang Saudi family - hom variant. Kousi et al, 2009 - 32/80 patients from 75 families - 10 mutations - 8 novel. Aiello et al 2009 - 9/23 children with late infantile-onset CLN of Italian origin and 1 from SE France - hom/compound het MFSD8 variants detected.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 19201763

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.

Created: 12 Nov 2018, 11:41 a.m.

Green List (high evidence)

Previous HGNC Approved gene symbol was CLN7. MFSD8 variants result in a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease, an inherited and fatal neurodegenerative disorder, clinical phenotypes include seizures, delayed psychomotor development, delayed speech development, mental retardation and visual impairment.

Created: 23 Oct 2018, 3:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MFSD8-related neuronal ceroid lipofuscinosis; CLN7 disease, late infantile

Publications

• 30249282
• 30144815
• 30301600
• 28586915

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)