Undiagnosed metabolic disorders
Gene: MFSD8EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P for Ceroid lipofuscinosis, neuronal, 7 610951. At 11 least variants reported in Ceroid lipofuscinosis, neuronal, 7 610951 with or without Ceroid lipofuscinosis, neuronal, 7 610951.Created: 17 Jan 2017, 10:20 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 7 610951
- Macular dystrophy with central cone involvement 616170
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)MFSD8 was added to Undiagnosed metabolic disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)MFSD8 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)MFSD8 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)MFSD8 was created by sleigh