Previous symbols: CLN7. Aliases: SLC74A1, MGC33302.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Juvenile Neuronal Ceroid Lipofuscinosis | causative germline |
mechanism: Lysosomal Ceroid-Lipofuscin Storage; MFSD8 lysosomal membrane transporter dysfunction
subtype: CLN7 disease, juvenile onset
scoped to subtype: CLN7 disease, juvenile onset
|
| Neuronal Ceroid Lipofuscinosis | causative |
mechanism: CLN Endomembrane Protein Dysfunction
subtype: CLN7 Disease
scoped to subtype: CLN7 Disease
|
| Neuronal Ceroid Lipofuscinosis 7 |
untyped
Causal biallelic pathogenic variants
|
mechanism: Improved Lysosomal Function (Milasen Patient Fibroblasts); MFSD8 Intron 6 SVA-Induced Cryptic Splicing (Milasen Patient); MFSD8 lysosomal membrane protein dysfunction; Milasen-Directed MFSD8 Splice Redirection (Milasen Patient); Restored Productive MFSD8 Transcript (Milasen Patient)
treatment: Milasen (patient-customized splice-modulating ASO)
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| neuronal ceroid lipofuscinosis MONDO:0016295 | AR | Definitive 2020-12-15 |
Neuronal Ceroid Lipofuscinosis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.