Congenital adrenal hypoplasia
Gene: CDKN1CAs 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.
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.
Comment on list classification: Good evidence of adrenal hypoplasia from OMIM, expert review and one sourceCreated: 7 Jun 2016, 8:39 a.m.
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
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for CDKN1C were set to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome)
Publications for CDKN1C were set to 22634751
Mode of pathogenicity for CDKN1C was changed to Other - please provide details in the comments
Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
This gene has been classified as Green List (High Evidence).
CDKN1C was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN