Gene Symbol:
MBTPS2
HGNC:15455
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.12
Filters:

Definitive classifications

IFAP syndrome with or without BRESHECK syndrome
XL
05/17/2021
Evaluated
10/18/2023
Submitted

Strong classifications

IFAP syndrome with or without BRESHECK syndrome
Submitted as: OMIM:308205
XL
12/07/2021
Evaluated
08/19/2023
Submitted
IFAP syndrome with or without BRESHECK syndrome
Submitted as: OMIM:308205
XL
02/01/2022
Evaluated
11/30/2023
Submitted
osteogenesis imperfecta, type 19
Submitted as: OMIM:301014
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

osteogenesis imperfecta
Submitted as: Orphanet:666
AD
09/14/2021
Evaluated
09/14/2021
Submitted
IFAP syndrome with or without BRESHECK syndrome
Submitted as: Orphanet:2273
AD
09/14/2021
Evaluated
09/14/2021
Submitted
keratosis follicularis spinulosa decalvans
Submitted as: Orphanet:2340
AD
09/14/2021
Evaluated
09/14/2021
Submitted
mutilating palmoplantar keratoderma with periorificial keratotic plaques
Submitted as: Orphanet:659
AD
09/14/2021
Evaluated
09/14/2021
Submitted
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

keratosis follicularis spinulosa decalvans, X-linked
Submitted as: OMIM:308800
XL
12/07/2021
Evaluated
08/19/2023
Submitted
Olmsted syndrome, X-linked
Submitted as: OMIM:300918
XL
12/07/2021
Evaluated
08/19/2023
Submitted
osteogenesis imperfecta, type 19
Submitted as: OMIM:301014
XL
12/07/2021
Evaluated
08/19/2023
Submitted

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