Gene Symbol:
COL7A1
HGNC:2214
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p21.31
Filters:

Definitive classifications

recessive dystrophic epidermolysis bullosa
AR
10/05/2023
Evaluated
01/02/2024
Submitted
recessive dystrophic epidermolysis bullosa
AR
06/20/2022
Evaluated
10/18/2023
Submitted

Strong classifications

epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Submitted as: OMIM:132000
AD
02/13/2021
Evaluated
03/09/2021
Submitted
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Submitted as: OMIM:132000
AR
04/09/2020
Evaluated
11/30/2023
Submitted
generalized dominant dystrophic epidermolysis bullosa
Submitted as: OMIM:131750
AD
04/09/2020
Evaluated
11/30/2023
Submitted
pretibial dystrophic epidermolysis bullosa
Submitted as: OMIM:131850
AD
10/15/2020
Evaluated
03/31/2021
Submitted
generalized dominant dystrophic epidermolysis bullosa
Submitted as: OMIM:131750
AD
02/13/2021
Evaluated
03/09/2021
Submitted
recessive dystrophic epidermolysis bullosa
Submitted as: OMIM:226600
AR
02/13/2021
Evaluated
03/09/2021
Submitted
generalized dominant dystrophic epidermolysis bullosa
Submitted as: OMIM:131750
AD
10/15/2020
Evaluated
03/31/2021
Submitted
transient bullous dermolysis of the newborn
Submitted as: OMIM:131705
AR
10/15/2020
Evaluated
03/31/2021
Submitted
dystrophic epidermolysis bullosa pruriginosa
Submitted as: OMIM:604129
AR
10/15/2020
Evaluated
03/31/2021
Submitted
recessive dystrophic epidermolysis bullosa
Submitted as: OMIM:226600
AR
10/15/2020
Evaluated
03/31/2021
Submitted
pretibial dystrophic epidermolysis bullosa
Submitted as: OMIM:131850
AR
10/15/2020
Evaluated
03/31/2021
Submitted
transient bullous dermolysis of the newborn
Submitted as: OMIM:131705
AD
10/15/2020
Evaluated
03/31/2021
Submitted
dystrophic epidermolysis bullosa pruriginosa
Submitted as: OMIM:604129
AD
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Submitted as: OMIM:132000
AD
10/15/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

recessive dystrophic epidermolysis bullosa inversa
Submitted as: Orphanet:79409
AR
09/14/2021
Evaluated
09/14/2021
Submitted
pretibial dystrophic epidermolysis bullosa
Submitted as: Orphanet:79410
AD
09/14/2021
Evaluated
09/14/2021
Submitted
transient bullous dermolysis of the newborn
Submitted as: Orphanet:79411
AD
09/14/2021
Evaluated
09/14/2021
Submitted
recessive dystrophic epidermolysis bullosa-generalized other
Submitted as: Orphanet:89842
AR
09/14/2021
Evaluated
09/14/2021
Submitted
dystrophic epidermolysis bullosa pruriginosa
Submitted as: Orphanet:89843
AD
09/14/2021
Evaluated
09/14/2021
Submitted
acral dystrophic epidermolysis bullosa
Submitted as: Orphanet:158673
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dystrophic epidermolysis bullosa, nails only
Submitted as: Orphanet:158676
AD
09/14/2021
Evaluated
09/14/2021
Submitted
generalized dominant dystrophic epidermolysis bullosa
Submitted as: Orphanet:231568
AD
09/14/2021
Evaluated
09/14/2021
Submitted
recessive dystrophic epidermolysis bullosa
Submitted as: Orphanet:79408
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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