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Genetic epilepsy syndromes

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 14 panels

8 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MFSD8.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MFSD8.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Louise Daugherty: Previous HGNC Approved gene sy

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951

12 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MFSD8 were set to

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MFSD8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MFSD8 was created by Sarah Leigh