CTC1

CST telomere replication complex component 1
OMIM: 613129, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CTC1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.136 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 2.6 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Mendeliome Version 1.4216	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.602	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Amber CTC1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.638	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 0.392 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.245 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Green CTC1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Green CTC1 in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Coats plus syndrome
Green CTC1 in Fetal anomalies Version 1.522	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in IBMDx study Version 0.38	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Green CTC1 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Red CTC1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199