Gene Symbol:
SCARB2
HGNC:1665
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q21.1
Filters:

Definitive classifications

progressive myoclonus epilepsy
AR
08/23/2020
Evaluated
10/18/2023
Submitted

Strong classifications

action myoclonus-renal failure syndrome
Submitted as: OMIM:254900
AR
01/13/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Unverricht-Lundborg syndrome
Submitted as: Orphanet:308
AR
09/14/2021
Evaluated
09/14/2021
Submitted
action myoclonus-renal failure syndrome
Submitted as: Orphanet:163696
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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