Gene Symbol:
CTNNB1
HGNC:2514
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p22.1
Filters:

Definitive classifications

severe intellectual disability-progressive spastic diplegia syndrome
Submitted as: OMIM:615075
AD
07/22/2015
Evaluated
11/25/2020
Submitted
severe intellectual disability-progressive spastic diplegia syndrome
AD
02/03/2021
Evaluated
08/16/2021
Submitted

Strong classifications

severe intellectual disability-progressive spastic diplegia syndrome
AD
08/03/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: CTNNB1 was first reported in relation to autosomal dominant CTNNB1-related severe intellectual disab... Read more
severe intellectual disability-progressive spastic diplegia syndrome
Submitted as: OMIM:615075
AD
05/31/2016
Evaluated
12/24/2020
Submitted

Moderate classifications

exudative vitreoretinopathy 7
Submitted as: OMIM:617572
AD
04/19/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

exudative vitreoretinopathy
Submitted as: Orphanet:891
AD
09/14/2021
Evaluated
09/14/2021
Submitted
severe intellectual disability-progressive spastic diplegia syndrome
Submitted as: Orphanet:404473
Unknown
09/14/2021
Evaluated
09/14/2021
Submitted

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