Differences of Sex Development
Gene: CDKN1C

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IMAGe syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis.

Reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279.
Created: 22 Sep 2021, 5:43 a.m. | Last Modified: 22 Sep 2021, 5:43 a.m.

Panel Version: 0.209

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

Phenotypes
IMAGe syndrome, MIM# 614732

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 22 Sep 2021, 5:43 a.m.
Last Modified: 22 Sep 2021, 5:43 a.m.
Panel version: 0.209

Details

Mode of Inheritance

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

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

IMAGe syndrome, MIM# 614732

OMIM

600856

Clinvar variants

Variants in CDKN1C

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene