Gene Symbol:
SOX5
HGNC:11201
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p12.1
Filters:

ClinGen classifications

Lamb-Shaffer syndrome
AD
01/27/2022
Evaluated
04/21/2024
Submitted

Invitae classifications

Lamb-Shaffer syndrome
Submitted as: OMIM:616803
AD
09/18/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

developmental and speech delay due to SOX5 deficiency
Submitted as: Orphanet:313892
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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