Gene Symbol:
CTSC
HGNC:2528
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q14.2
Filters:

Definitive classifications

Papillon-Lefevre disease
Submitted as: OMIM:245000
AR
08/31/2018
Evaluated
03/02/2021
Submitted
Haim-Munk syndrome
AR
09/16/2019
Evaluated
01/17/2025
Submitted

Strong classifications

ectodermal dysplasia syndrome
AR
12/15/2020
Evaluated
09/14/2023
Submitted
Haim-Munk syndrome
Submitted as: OMIM:245010
AR
03/20/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

Haim-Munk syndrome
Submitted as: OMIM:245010
AR
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

Haim-Munk syndrome
Submitted as: Orphanet:2342
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Papillon-Lefevre disease
Submitted as: Orphanet:678
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

periodontitis, aggressive 1
Submitted as: OMIM:170650
Unknown
04/09/2020
Evaluated
11/30/2023
Submitted
Haim-Munk syndrome
Submitted as: OMIM:245010
Unknown
03/20/2020
Evaluated
11/30/2023
Submitted
Papillon-Lefevre disease
Submitted as: OMIM:245000
Unknown
09/15/2022
Evaluated
11/30/2023
Submitted

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