Gene Symbol:
AARS2
HGNC:21022
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p21.1
Filters:

Combined oxidative phosphorylation defect type 8 classifications

combined oxidative phosphorylation defect type 8
Submitted as: OMIM:614096
AR
04/02/2018
Evaluated
12/24/2020
Submitted
combined oxidative phosphorylation defect type 8
Submitted as: Orphanet:319504
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia classifications

hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Submitted as: Orphanet:313808
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Leukoencephalopathy, progressive, with ovarian failure classifications

leukoencephalopathy, progressive, with ovarian failure
Submitted as: OMIM:615889
AR
05/19/2019
Evaluated
12/24/2020
Submitted
leukoencephalopathy, progressive, with ovarian failure
Submitted as: OMIM:615889
AR
05/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Ovarioleukodystrophy classifications

ovarioleukodystrophy
Submitted as: Orphanet:99853
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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