Neuronal ceroid lipofuscinosis
Gene: MFSD8EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 15 panels
2 reviews
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
-
- NHS GMS
- London North GLH
- Expert Review Green
- 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
-
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Hyperammonaemia
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MFSD8 was added gene: MFSD8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal