Retinal disordersGene: MFSD8
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to MFSD8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: mfsd8 has been classified as Green List (High Evidence).
Publications for gene: MFSD8 were set to
MFSD8 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
MFSD8 was created by ellenmcdonagh