CDKN1C

cyclin dependent kinase inhibitor 1C
OMIM: 600856, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red CDKN1C in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650
Green CDKN1C in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes IMAGe syndrome, MIM# 614732
Green CDKN1C in Hyperinsulinism Level 2: Endocrine disorders Version 1.49	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Phenotypes Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476
Green CDKN1C in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CDKN1C in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 IMAGe syndrome, MIM# 614732 Silver-Russell syndrome
Green CDKN1C in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650
Green CDKN1C in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber CDKN1C in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes IMAGE syndrome, MIM# 614732
Green CDKN1C in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes IMAGE syndrome 614732
Amber CDKN1C in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Beckwith-Wiedemann syndrome 130650
Green CDKN1C in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes IMAGE syndrome 614732
Green CDKN1C in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Beckwith-Wiedemann syndrome
Green CDKN1C in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME BWS
Green CDKN1C in Growth failure Version 1.83	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes IMAGe syndrome, MIM# 614732 Silver-Russell syndrome
Green CDKN1C in Imprinting disorders Version 1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Phenotypes Affected tissue: all Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome Phenotypes resulting from gene over expression: IMAGE syndrome Silver-Russell Syndrome
Green CDKN1C in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 IMAGe syndrome, MIM# 614732 Silver-Russell syndrome
Green CDKN1C in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes IMAGe syndrome, MIM# 614732 Tags treatable endocrine
Green CDKN1C in Wilms Tumour Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Wilms tumor, MONDO:0006058 Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476 Beckwith-Wiedemann syndrome, MIM#130650