Gene Symbol:
SLC39A13
HGNC:20859
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p11.2
Filters:

Ambry Genetics classifications

Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
04/02/2018
Evaluated
09/28/2021
Submitted

Genomics England PanelApp classifications

Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
03/04/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
04/19/2020
Evaluated
11/30/2023
Submitted

Orphanet classifications

Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: Orphanet:157965
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
10/08/2020
Evaluated
11/09/2020
Submitted

G2P classifications

spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Submitted as: OMIM:601668
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Submitted as: OMIM:612350
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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