Gene Symbol:
KRT14
HGNC:6416
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.2
Filters:

Definitive classifications

epidermolysis bullosa simplex 1A, generalized severe
Submitted as: OMIM:131760
AD
08/15/2017
Evaluated
03/02/2021
Submitted

Strong classifications

Naegeli-Franceschetti-Jadassohn syndrome
Submitted as: OMIM:161000
AD
06/19/2017
Evaluated
12/04/2020
Submitted
epidermolysis bullosa simplex 1C, localized
Submitted as: OMIM:131800
AD
10/15/2020
Evaluated
03/31/2021
Submitted
dermatopathia pigmentosa reticularis
Submitted as: OMIM:125595
AD
10/15/2020
Evaluated
03/31/2021
Submitted
Naegeli-Franceschetti-Jadassohn syndrome
Submitted as: OMIM:161000
AD
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 1B, generalized intermediate
Submitted as: OMIM:131900
AD
10/15/2020
Evaluated
03/31/2021
Submitted
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
10/15/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

Naegeli-Franceschetti-Jadassohn syndrome
Submitted as: Orphanet:69087
AD
09/14/2021
Evaluated
09/14/2021
Submitted
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
dermatopathia pigmentosa reticularis
Submitted as: Orphanet:86920
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Submitted as: Orphanet:89838
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Naegeli-Franceschetti-Jadassohn syndrome
Submitted as: OMIM:161000
AD
04/20/2020
Evaluated
03/02/2021
Submitted

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