Vascular Malformations_Germline
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Capillary vascular malformations are prominent in BWS.Created: 2 Jun 2020, 4:29 a.m. | Last Modified: 2 Jun 2020, 4:29 a.m.
Panel Version: 0.87
Phenotypes
Beckwith-Wiedemann syndrome, MIM# 130650
Bryony Thompson (Royal Melbourne Hospital)
It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert listCreated: 20 Jan 2020, 7:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Beckwith-Wiedemann syndrome 130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Panels with this gene
-
- Overgrowth
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Imprinting disorders
- Differences of Sex Development
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Congenital diaphragmatic hernia
- Wilms Tumour
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 to Beckwith-Wiedemann syndrome 130650
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CDKN1C was added gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 Review for gene: CDKN1C was set to RED