Gene Symbol:
CLTC
HGNC:2092
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q23.1
Filters:

Strong classifications

intellectual disability, autosomal dominant 56
AD
08/22/2018
Evaluated
10/15/2020
Submitted
intellectual disability, autosomal dominant 56
Submitted as: OMIM:617854
AD
01/24/2020
Evaluated
03/02/2021
Submitted
intellectual disability, autosomal dominant 56
Submitted as: OMIM:617854
AD
12/16/2020
Evaluated
06/30/2023
Submitted
intellectual disability, autosomal dominant 56
Submitted as: OMIM:617854
AD
05/24/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted
undetermined early-onset epileptic encephalopathy
Submitted as: Orphanet:442835
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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