CTC1

CST telomere replication complex component 1
OMIM: 613129, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CTC1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.112 Component of the following Super Panels: Immunological disorders_SuperPanel	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 Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	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 Mendeliome Version 1.2302	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 0.572	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 1.63	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 - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Amber CTC1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199
Green CTC1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	review	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 0.109	review	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 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Coats plus syndrome
Green CTC1 in Fetal anomalies Version 1.313	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 0.33	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 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Red CTC1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199