Gene Symbol:
BCKDHA
HGNC:986
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.2
Filters:

Definitive classifications

maple syrup urine disease type 1A
AR
11/20/2018
Evaluated
10/13/2020
Submitted
maple syrup urine disease
Submitted as: OMIM:248600
AR
07/22/2015
Evaluated
11/25/2020
Submitted
maple syrup urine disease
Submitted as: OMIM:248600
AR
04/23/2018
Evaluated
03/02/2021
Submitted
maple syrup urine disease type 1A
AR
09/14/2018
Evaluated
08/16/2021
Submitted

Strong classifications

maple syrup urine disease
Submitted as: OMIM:248600
AR
12/15/2020
Evaluated
05/25/2021
Submitted

Supportive classifications

classic maple syrup urine disease
Submitted as: Orphanet:268145
AR
09/14/2021
Evaluated
09/14/2021
Submitted
intermediate maple syrup urine disease
Submitted as: Orphanet:268162
AR
09/14/2021
Evaluated
09/14/2021
Submitted
intermittent maple syrup urine disease
Submitted as: Orphanet:268173
AR
09/14/2021
Evaluated
09/14/2021
Submitted
thiamine-responsive maple syrup urine disease
Submitted as: Orphanet:268184
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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