Gene Symbol:
SLC25A46
HGNC:25198
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q22.1
Filters:

Hereditary motor and sensory neuropathy type 6 classifications

hereditary motor and sensory neuropathy type 6
Submitted as: Orphanet:90120
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Leigh syndrome classifications

Neuropathy, hereditary motor and sensory, type 6B classifications

neuropathy, hereditary motor and sensory, type 6B
Submitted as: OMIM:616505
AR
04/30/2018
Evaluated
12/24/2020
Submitted
neuropathy, hereditary motor and sensory, type 6B
Submitted as: OMIM:616505
AR
04/09/2020
Evaluated
11/30/2023
Submitted
neuropathy, hereditary motor and sensory, type 6B
AR
05/26/2020
Evaluated
04/21/2024
Submitted

Pontocerebellar hypoplasia type 1 classifications

pontocerebellar hypoplasia type 1
Submitted as: Orphanet:2254
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Pontocerebellar hypoplasia, type 1E classifications

pontocerebellar hypoplasia, type 1E
Submitted as: OMIM:619303
AR
07/07/2021
Evaluated
11/30/2023
Submitted

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