Gene Symbol:
AEBP1
HGNC:303
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7p13
Filters:

Ambry Genetics classifications

Ehlers-Danlos syndrome, classic-like, 2
Submitted as: OMIM:618000
AR
04/06/2018
Evaluated
03/02/2021
Submitted

Genomics England PanelApp classifications

Ehlers-Danlos syndrome, classic-like, 2
Submitted as: OMIM:618000
AR
03/04/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

Ehlers-Danlos syndrome, classic-like, 2
Submitted as: OMIM:618000
AR
03/15/2019
Evaluated
11/30/2023
Submitted

Orphanet classifications

Ehlers-Danlos syndrome, classic-like, 2
Submitted as: Orphanet:536532
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

Ehlers-Danlos syndrome, classic-like, 2
Submitted as: OMIM:618000
AR
10/08/2020
Evaluated
11/09/2020
Submitted

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