Congenital adrenal hypoplasia
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
4 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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 sourceCreated: 7 Jun 2016, 8:39 a.m.
John Achermann (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- DDG2P
- Sarcoma cancer susceptibility
- Differences in sex development
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Wilms tumour with features suggestive of predisposition
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
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
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.
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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)
Set publications
Damian Smedley (Genomics England Curator)Publications for CDKN1C were set to 22634751
Set mode of pathogenicity
Damian Smedley (Genomics England Curator)Mode of pathogenicity for CDKN1C was changed to Other - please provide details in the comments
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)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)CDKN1C was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN