Gene Symbol:
MARS1
HGNC:6898
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.3
Filters:

Strong classifications

Charcot-Marie-Tooth disease axonal type 2U
Submitted as: OMIM:616280
AD
12/20/2022
Evaluated
11/30/2023
Submitted
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Submitted as: OMIM:615486
AR
09/22/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Charcot-Marie-Tooth disease axonal type 2U
Submitted as: Orphanet:397735
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive spastic paraplegia type 70
Submitted as: Orphanet:401835
AR
09/14/2021
Evaluated
09/14/2021
Submitted
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Submitted as: Orphanet:440427
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Charcot-Marie-Tooth disease
AD
10/05/2020
Evaluated
10/18/2023
Submitted
trichothiodystrophy 9, nonphotosensitive
Submitted as: OMIM:619692
AR
09/15/2023
Evaluated
09/20/2023
Submitted
trichothiodystrophy 9, nonphotosensitive
Submitted as: OMIM:619692
Unknown
02/11/2022
Evaluated
11/30/2023
Submitted
spastic paraplegia 70, autosomal recessive
Submitted as: OMIM:620323
Unknown
07/09/2023
Evaluated
11/30/2023
Submitted

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