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Intellectual disability

Gene: CDKN1C

Amber List (moderate evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 19 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Some individuals with IMAGe syndrome can have ID
Created: 14 Jun 2018, 2:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:18 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:10 p.m.

Mode of inheritance
Unknown

Publications

Louise Daugherty (Genomics England Curator)

I don't know

After additional Green review from external reviewer this gene was reviewed again but there is currently not enough evidence in the literature to support ID being a main feature of IMAGE syndrome. Of the 28 individuals reported in GeneReview (PMID: 24624461), 17 from nine unrelated families have had the diagnosis confirmed molecularly. Developmental outcome is believed to be normal, as 15 of the 16 individuals in whom cognitive outcome was mentioned were reported as normal; the oldest reported was 26 years old.Hypotonia was reported in six individuals and noted to be absent in four others; some of those reported with developmental delay likely had motor delays secondary to hypotonia. Of seven affected individuals with classic IMAGe syndrome for whom head imaging was reported (3 via cranial ultrasound examination, 1 via head CT, and 3 via brain MRI), all were normal.
Created: 15 Aug 2018, 10:35 a.m.
Comment on publications: added publications suggested from external expert review to support gene-disease association
Created: 15 Aug 2018, 9:47 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 19 Jul 2017, 5:01 p.m.

History Filter Activity

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CDKN1C.

15 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDKN1C were set to IMAGE syndrome, 614732; ntrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

15 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDKN1C were set to IMAGE syndrome, 614732

15 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDKN1C were set to IMAGE syndrome, 614732

15 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732; intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies)

15 Aug 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CDKN1C was changed from Other - please specify in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CDKN1C were set to 25529582; 22634751

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

CDKN1C was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

CDKN1C was created by BRIDGE