Gene Symbol:
CDKN1C
HGNC:1786
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.4
Filters:

Definitive classifications

Beckwith-Wiedemann syndrome
Submitted as: OMIM:130650
ADIPI
07/22/2015
Evaluated
11/25/2020
Submitted
IMAGe syndrome
Submitted as: OMIM:614732
ADIPI
04/10/2018
Evaluated
11/25/2020
Submitted
Beckwith-Wiedemann syndrome
Submitted as: OMIM:130650
AD
08/17/2015
Evaluated
03/02/2021
Submitted

Strong classifications

Beckwith-Wiedemann syndrome
Submitted as: OMIM:130650
AD
10/27/2021
Evaluated
02/03/2022
Submitted

Moderate classifications

AD
02/11/2021
Evaluated
03/31/2021
Submitted
IMAGe syndrome
Submitted as: OMIM:614732
AD
08/17/2015
Evaluated
03/02/2021
Submitted
AD
11/04/2020
Evaluated
10/27/2022
Submitted

Supportive classifications

AD
09/14/2021
Evaluated
09/14/2021
Submitted
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Submitted as: Orphanet:231120
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Submitted as: Orphanet:436144
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Silver-Russell syndrome
AD
02/24/2020
Evaluated
09/28/2021
Submitted

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