Retinal disorders
Gene: MFSD8EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 15 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.Created: 3 Apr 2019, 12:47 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 7, 610951
- Macular dystrophy with central cone involvement, 616170
- Eye Disorders
- OMIM
- 611124
- Clinvar variants
- Variants in MFSD8
- Penetrance
- Complete
- Publications
- 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 mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MFSD8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mfsd8 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MFSD8 were set to
Added New Source
Ellen McDonagh (Genomics England Curator)MFSD8 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)MFSD8 was created by ellenmcdonagh