Syndromic Retinopathy
Gene: MFSD8EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Retinal degeneration is part of the phenotype.
Sources: Expert ReviewCreated: 9 Oct 2020, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 OMIM #610951
Elena Savva (Victorian Clinical Genetics Services)
No genotype-phenotype correlation, though there is some speculation that residual enzyme activity that is sufficient for all organs except the eye results in nonsyndromic eye disease (OMIM).
The same genotype can result in either vLINCL or nonsyndromic CCMD (PMID:31006324).Created: 17 Apr 2020, 4:42 a.m. | Last Modified: 17 Apr 2020, 4:42 a.m.
Panel Version: 0.2301
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170
Publications
- PMID:31006324
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 7 OMIM #610951
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mfsd8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mfsd8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MFSD8 was added gene: MFSD8 was added to Syndromic Retinopathy. Sources: Expert Review 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 Review for gene: MFSD8 was set to GREEN