Gene Symbol:
CSTB
HGNC:2482
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
21q22.3
Filters:

Definitive classifications

Unverricht-Lundborg syndrome
Submitted as: OMIM:254800
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Unverricht-Lundborg syndrome
AR
06/16/2020
Evaluated
10/18/2023
Submitted

Strong classifications

Unverricht-Lundborg syndrome
Submitted as: OMIM:254800
AR
06/08/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

keratolytic winter erythema
Submitted as: OMIM:148370
AD
02/13/2021
Evaluated
03/09/2021
Submitted
developmental and epileptic encephalopathy
AR
12/01/2020
Evaluated
10/18/2023
Submitted

Supportive classifications

Unverricht-Lundborg syndrome
Submitted as: Orphanet:308
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive hypohidrotic ectodermal dysplasia
Submitted as: Orphanet:248
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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