Gene Symbol:
EXT1
HGNC:3512
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q24.11
Filters:

ClinGen classifications

exostoses, multiple, type 1
AD
06/04/2018
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

chondrosarcoma
Submitted as: OMIM:215300
AD
02/11/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

exostoses, multiple, type 1
Submitted as: OMIM:133700
AD
03/08/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

hereditary multiple osteochondromas
Submitted as: Orphanet:321
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

exostoses, multiple, type 1
Submitted as: OMIM:133700
AD
07/22/2015
Evaluated
09/11/2023
Submitted
trichorhinophalangeal syndrome type II
Submitted as: OMIM:150230
AD
07/22/2015
Evaluated
11/25/2020
Submitted

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