Congenital adrenal hypoplasia

Gene: CDKN1C

Green List (high evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 21 panels

4 reviews

Anna de Burca (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: this gene presents a difficult target for NGS due to its GC-rich nature.
Created: 5 Mar 2019, 11:22 a.m.

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 1:47 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence of adrenal hypoplasia from OMIM, expert review and one source
Created: 7 Jun 2016, 8:39 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Probable gain of function effects in a paternally impritnted (maternally expressed) gene. Phenotype variable but growth restriction key.
Created: 7 Dec 2015, 1:34 p.m.
Maternally expressed activating mutations in CDKN1C are associated with IMAGe syndrome (IUGR, Metaphyseal dysplasia, Adrenal hypoplasia, Genitourinary anomalies). To date, mutations tend to cluster in a region of the PCNA-binding domain. Other point mutations or copy number variants of CDKN1C are associated with growth restriction but normal adrenal function. Loss of CDKN1C associated with Beckwith-Wiedemann syndrome.
Created: 26 Oct 2015, 5:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
IMAGe syndrome

Publications

Mode of pathogenicity
Other

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CDKN1C were changed from Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome) to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732

6 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Set Phenotypes

Damian Smedley (Genomics England Curator)

Phenotypes for CDKN1C were set to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome)

7 Jun 2016, Gel status: 4

Set publications

Damian Smedley (Genomics England Curator)

Publications for CDKN1C were set to 22634751

7 Jun 2016, Gel status: 4

Set mode of pathogenicity

Damian Smedley (Genomics England Curator)

Mode of pathogenicity for CDKN1C was changed to Other - please provide details in the comments

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CDKN1C was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN