Gene Symbol:
BSCL2
HGNC:15832
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q12.3
Filters:

Strong classifications

neonatal diabetes mellitus
AR
02/19/2020
Evaluated
03/31/2021
Submitted
generalized lipodystrophy
AR
02/19/2020
Evaluated
03/31/2021
Submitted
congenital generalized lipodystrophy type 2
Submitted as: OMIM:269700
AR
02/19/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

Berardinelli-Seip congenital lipodystrophy
Submitted as: Orphanet:528
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary spastic paraplegia 17
Submitted as: Orphanet:100998
AD
09/14/2021
Evaluated
09/14/2021
Submitted
neuronopathy, distal hereditary motor, type 5A
Submitted as: Orphanet:139536
AD
09/14/2021
Evaluated
09/14/2021
Submitted
severe neurodegenerative syndrome with lipodystrophy
Submitted as: Orphanet:363400
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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