Gene Symbol:
GLI3
HGNC:4319
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7p14.1
Filters:

Definitive classifications

Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
10/16/2023
Evaluated
01/02/2024
Submitted
polydactyly, postaxial, type A1
Submitted as: OMIM:174200
AD
07/22/2015
Evaluated
11/25/2020
Submitted
Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
06/23/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Pallister-Hall syndrome
Submitted as: OMIM:146510
AD
05/14/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Pallister-Hall syndrome
Submitted as: OMIM:146510
AD
10/16/2023
Evaluated
01/02/2024
Submitted
Pallister-Hall syndrome
Submitted as: OMIM:146510
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
01/29/2021
Evaluated
03/31/2021
Submitted
Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Greig cephalopolysyndactyly syndrome
Submitted as: OMIM:175700
AD
05/27/2021
Evaluated
11/30/2023
Submitted
Pallister-Hall syndrome
Submitted as: OMIM:146510
AD
10/03/2022
Evaluated
11/30/2023
Submitted
polydactyly, postaxial, type A1
Submitted as: OMIM:174200
AD
08/31/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

polysyndactyly 4
Submitted as: OMIM:174700
AD
09/18/2017
Evaluated
03/02/2021
Submitted

Supportive classifications

acrocallosal syndrome
Submitted as: Orphanet:36
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Greig cephalopolysyndactyly syndrome
Submitted as: Orphanet:380
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Pallister-Hall syndrome
Submitted as: Orphanet:672
AD
09/14/2021
Evaluated
09/14/2021
Submitted
tibial hemimelia
Submitted as: Orphanet:93322
AD
09/14/2021
Evaluated
09/14/2021
Submitted
postaxial polydactyly type A
Submitted as: Orphanet:93334
AR
09/14/2021
Evaluated
09/14/2021
Submitted
polysyndactyly 4
Submitted as: Orphanet:93338
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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