Gene Symbol:
HUWE1
HGNC:30892
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.22
Filters:

Definitive classifications

intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:300706
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:309590
XL
01/29/2018
Evaluated
03/02/2021
Submitted
intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:309590
XL
11/04/2020
Evaluated
10/27/2022
Submitted
intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:300706
XL
07/22/2015
Evaluated
09/11/2023
Submitted
non-syndromic X-linked intellectual disability
XL
10/20/2017
Evaluated
04/21/2024
Submitted

Strong classifications

intellectual disability, X-linked syndromic, Turner type
Submitted as: OMIM:309590
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

syndromic intellectual disability
Submitted as: Orphanet:528084
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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