Gene Symbol:
SHH
HGNC:10848
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q36.3
Filters:

Definitive classifications

polydactyly of a triphalangeal thumb
Submitted as: OMIM:174500
AD
07/22/2015
Evaluated
09/11/2023
Submitted
microphthalmia, isolated, with coloboma 5
Submitted as: OMIM:611638
AD
07/22/2015
Evaluated
09/11/2023
Submitted
solitary median maxillary central incisor syndrome
Submitted as: OMIM:147250
AD
01/22/2018
Evaluated
09/11/2023
Submitted
holoprosencephaly 3
Submitted as: OMIM:142945
AD
07/22/2015
Evaluated
09/11/2023
Submitted
holoprosencephaly 3
Submitted as: OMIM:142945
AD
03/07/2018
Evaluated
09/28/2021
Submitted

Strong classifications

microphthalmia, isolated, with coloboma 5
Submitted as: OMIM:611638
AD
12/28/2020
Evaluated
12/30/2020
Submitted
holoprosencephaly 3
Submitted as: OMIM:142945
AD
08/20/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

solitary median maxillary central incisor syndrome
Submitted as: OMIM:147250
AD
03/07/2018
Evaluated
09/28/2021
Submitted
skeletal system disorder
AD
03/07/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

holoprosencephaly
Submitted as: Orphanet:2162
AR
09/14/2021
Evaluated
09/14/2021
Submitted
triphalangeal thumb-polysyndactyly syndrome
Submitted as: Orphanet:2950
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypoplastic tibiae-postaxial polydactyly syndrome
Submitted as: Orphanet:3332
AD
09/14/2021
Evaluated
09/14/2021
Submitted
polydactyly of a triphalangeal thumb
Submitted as: Orphanet:93336
AD
09/14/2021
Evaluated
09/14/2021
Submitted
syndactyly type 4
Submitted as: Orphanet:93405
AD
09/14/2021
Evaluated
09/14/2021
Submitted
microphthalmia, isolated, with coloboma
Submitted as: Orphanet:98938
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Submitted as: Orphanet:476119
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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