Gene Symbol:
SLC26A2
HGNC:10994
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q32
Filters:

Definitive classifications

achondrogenesis type IB
Submitted as: OMIM:600972
AR
07/22/2015
Evaluated
09/11/2023
Submitted
multiple epiphyseal dysplasia type 4
Submitted as: OMIM:226900
AR
07/22/2015
Evaluated
09/11/2023
Submitted
diastrophic dysplasia
AR
06/01/2020
Evaluated
04/21/2024
Submitted
achondrogenesis type IB
AR
08/03/2020
Evaluated
04/21/2024
Submitted
multiple epiphyseal dysplasia
AR
04/06/2020
Evaluated
04/21/2024
Submitted
atelosteogenesis type II
AR
07/14/2020
Evaluated
04/21/2024
Submitted

Strong classifications

diastrophic dysplasia
Submitted as: OMIM:222600
AR
01/17/2018
Evaluated
12/24/2020
Submitted
diastrophic dysplasia
Submitted as: OMIM:222600
AR
09/12/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

multiple epiphyseal dysplasia type 4
Submitted as: OMIM:226900
AR
01/17/2018
Evaluated
12/24/2020
Submitted
atelosteogenesis type II
Submitted as: OMIM:256050
AR
01/17/2018
Evaluated
12/24/2020
Submitted
achondrogenesis type IB
Submitted as: OMIM:600972
AR
01/17/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

diastrophic dysplasia
Submitted as: Orphanet:628
AR
09/14/2021
Evaluated
09/14/2021
Submitted
atelosteogenesis type II
Submitted as: Orphanet:56304
AR
09/14/2021
Evaluated
09/14/2021
Submitted
achondrogenesis type IB
Submitted as: Orphanet:93298
AR
09/14/2021
Evaluated
09/14/2021
Submitted
multiple epiphyseal dysplasia type 4
Submitted as: Orphanet:93307
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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