Ataxia and cerebellar anomalies - narrow panel
Gene: MFSD8EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 15 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 1:41 p.m. | Last Modified: 11 Mar 2026, 1:41 p.m.
Panel Version: 8.67
Sarah Leigh (Genomics England Curator)
MFSD8 variants have been associated with Ceroid lipofuscinosis, neuronal, 7 OMIM:610951 and as a definitive gene for the same condition in G2P. At least 12 MFSD8 variants have been associated with OMIM:610951 in at least 12 unrelated cases (PMID:39108195;30144815;19201763). The age of onset is typically in childhood, however, PMID:39108195 reports NM_152778.4: c.935T>C p.(Ile312Thr) in cases with adult‐onset recessive ataxia, which can be the presenting feature, but may also occur in combination with retinal dystrophy.Created: 13 Jan 2025, 6:18 p.m. | Last Modified: 13 Jan 2025, 6:18 p.m.
Panel Version: 2.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Publications
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 7 OMIM:610951
- neuronal ceroid lipofuscinosis 7 MONDO:0012588
- OMIM
- 611124
- Clinvar variants
- Variants in MFSD8
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Retinal disorders
- Structural eye disease
- Hyperammonaemia
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Glaucoma (developmental)
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_25_ promote_green was removed from gene: MFSD8.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MFSD8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q1_25_ NHS_review was removed from gene: MFSD8.
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_25_ NHS_review tag was added to gene: MFSD8. Tag Q1_25_ promote_green tag was added to gene: MFSD8.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mfsd8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: MFSD8 was added gene: MFSD8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588