MFSD8 (also called CLN7) was first reported in relation to autosomal recessive neuronal ceroid lipofuscinosis in 2007 (Siintola et al. 2007, PMID 17564970). At least 20 unique variants have been reported in humans, including biallelic null variants (e.g., PMIDs 19177532, 30144815) as well as missense variants (PMIDs 18850119, 19277732, 25270050, 25333361, 30249282), from various ancestries. Evidence supporting this disease-gene association includes case-level genetic data and experimental data. More genetic evidence is available in the literature than was scored here because the maximum score for genetic evidence (12 pts.) has been reached. This gene has also been implicated in macular dystrophy; that asserted relationship was not assessed here. In summary, MFSD8 is definitively associated with autosomal recessive neuronal ceroid lipofuscinosis. This classification was approved by the ClinGen Epilepsy Gene Curation Working Group on 12/15/20 (SOP Version 8).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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