TCTN1

tectonic family member 1
OMIM: 609863, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TCTN1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608
Green TCTN1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608
Green TCTN1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608
Red TCTN1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173
Red TCTN1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608
Green TCTN1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608
Red TCTN1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green TCTN1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 13, MIM# 614173
Red TCTN1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Joubert syndrome
Green TCTN1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173
Red TCTN1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome