Gene Symbol:
SELENON
HGNC:15999
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.11
Filters:

Definitive classifications

SELENON-related myopathy
AR
04/27/2020
Evaluated
04/21/2024
Submitted

Strong classifications

congenital myopathy 4A, autosomal dominant
Submitted as: OMIM:255310
AR
04/09/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

congenital fiber-type disproportion myopathy
Submitted as: Orphanet:2020
AD
09/14/2021
Evaluated
09/14/2021
Submitted
desmin-related myopathy with Mallory body-like inclusions
Submitted as: Orphanet:84132
AR
09/14/2021
Evaluated
09/14/2021
Submitted
rigid spine syndrome
Submitted as: Orphanet:97244
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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