Gene Symbol:
KRT1
HGNC:6412
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.13
Filters:

Definitive classifications

ichthyosis hystrix of Curth-Macklin
AD
09/16/2019
Evaluated
01/17/2025
Submitted
annular epidermolytic ichthyosis
AD
09/16/2019
Evaluated
01/17/2025
Submitted

Strong classifications

epidermolytic ichthyosis
Submitted as: OMIM:113800
AD
02/13/2021
Evaluated
03/09/2021
Submitted
ichthyosis, annular epidermolytic 1
Submitted as: OMIM:607602
AD
09/13/2022
Evaluated
11/30/2023
Submitted
ichthyosis hystrix of Curth-Macklin
Submitted as: OMIM:146590
AD
01/29/2021
Evaluated
03/31/2021
Submitted
diffuse nonepidermolytic palmoplantar keratoderma
Submitted as: OMIM:600962
AD
01/29/2021
Evaluated
03/31/2021
Submitted
ichthyosis hystrix of Curth-Macklin
Submitted as: OMIM:146590
AD
01/20/2021
Evaluated
03/09/2021
Submitted
annular epidermolytic ichthyosis
Submitted as: OMIM:607602
AD
01/20/2021
Evaluated
03/09/2021
Submitted
annular epidermolytic ichthyosis
Submitted as: OMIM:607602
AD
01/29/2021
Evaluated
03/31/2021
Submitted
epidermolytic ichthyosis
Submitted as: OMIM:113800
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Moderate classifications

epidermolytic ichthyosis
AD
06/22/2021
Evaluated
10/27/2022
Submitted

Supportive classifications

epidermolytic ichthyosis
Submitted as: Orphanet:312
AD
09/14/2021
Evaluated
09/14/2021
Submitted
ichthyosis hystrix of Curth-Macklin
Submitted as: Orphanet:79503
AD
09/14/2021
Evaluated
09/14/2021
Submitted
annular epidermolytic ichthyosis
Submitted as: Orphanet:281139
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital reticular ichthyosiform erythroderma
Submitted as: Orphanet:281190
AD
09/14/2021
Evaluated
09/14/2021
Submitted
diffuse nonepidermolytic palmoplantar keratoderma
Submitted as: Orphanet:530838
AD
09/14/2021
Evaluated
09/14/2021
Submitted
striate palmoplantar keratoderma
Submitted as: Orphanet:50942
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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