Macular Dystrophy/Stargardt Disease
Gene: MFSD8
MFSD8 (major facilitator superfamily domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 7, 610951
- Macular dystrophy with central cone involvement, 616170
- OMIM
- 611124
- Clinvar variants
- Variants in MFSD8
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Macular Dystrophy/Stargardt Disease
- Lysosomal Storage Disorder
- Syndromic Retinopathy
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MFSD8 was added gene: MFSD8 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170