Gene Symbol:
KRT5
HGNC:6442
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.13
Filters:

Definitive classifications

epidermolysis bullosa simplex 1A, generalized severe
Submitted as: OMIM:131760
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Strong classifications

epidermolysis bullosa simplex 1A, generalized severe
Submitted as: OMIM:131760
AD
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Submitted as: OMIM:601001
AR
02/13/2021
Evaluated
03/09/2021
Submitted
epidermolysis bullosa simplex 2B, generalized intermediate
Submitted as: OMIM:619588
AD
12/20/2021
Evaluated
11/30/2023
Submitted
Dowling-Degos disease 1
Submitted as: OMIM:179850
AD
08/31/2021
Evaluated
11/30/2023
Submitted
epidermolysis bullosa simplex 1B, generalized intermediate
Submitted as: OMIM:131900
AD
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
Submitted as: OMIM:619599
AR
01/18/2022
Evaluated
11/30/2023
Submitted
epidermolysis bullosa simplex 2F, with mottled pigmentation
Submitted as: OMIM:131960
AD
02/13/2021
Evaluated
03/09/2021
Submitted
epidermolysis bullosa simplex 1C, localized
Submitted as: OMIM:131800
AD
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 2F, with mottled pigmentation
Submitted as: OMIM:131960
AD
10/15/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

Dowling-Degos disease 1
Submitted as: OMIM:179850
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

epidermolysis bullosa simplex 1A, generalized severe
Submitted as: Orphanet:79396
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 2F, with mottled pigmentation
Submitted as: Orphanet:79397
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 1B, generalized intermediate
Submitted as: Orphanet:79399
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 1C, localized
Submitted as: Orphanet:79400
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 2E, with migratory circinate erythema
Submitted as: Orphanet:158681
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Dowling-Degos disease
Submitted as: Orphanet:79145
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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