Gene Symbol:
CIC
HGNC:14214
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.2
Filters:

Definitive classifications

intellectual disability, autosomal dominant 45
AD
07/14/2021
Evaluated
10/27/2022
Submitted

Strong classifications

cerebral folate deficiency
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: In a trio-based genetic analysis on patients with CFD and identified de-novo mutation in CIC. additi... Read more
intellectual disability, autosomal dominant 45
Submitted as: OMIM:617600
AD
03/07/2022
Evaluated
11/30/2023
Submitted
intellectual disability, autosomal dominant 45
Submitted as: OMIM:617600
AD
07/22/2015
Evaluated
07/01/2021
Submitted

Supportive classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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