Gene Symbol:
DDX3X
HGNC:2745
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.4
Filters:

Ambry Genetics classifications

intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
03/05/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

X-linked syndromic intellectual disability
XL
05/05/2020
Evaluated
04/21/2024
Submitted

Illumina classifications

X-linked syndromic intellectual disability
XL
07/26/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The DDX3X gene is located on chromosome X at Xp11.4 and encodes the DEAD-box helicase 3 X-linked pro... Read more

Invitae classifications

intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
07/05/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

Toriello-Carey syndrome
Submitted as: Orphanet:3338
AR
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked intellectual disability-hypotonia-movement disorder syndrome
Submitted as: Orphanet:457260
XL
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

intellectual disability, X-linked 102
Submitted as: OMIM:300958
XLR
11/21/2019
Evaluated
11/25/2020
Submitted
intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
11/21/2019
Evaluated
09/11/2023
Submitted

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