TCTN3

tectonic family member 3
OMIM: 613847, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TCTN3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	2 reviews	Unknown	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert list Genomics England PanelApp Expert Review Green
Green TCTN3 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 Mohr-Majewski syndrome Meckel-Gruber syndrome
Green TCTN3 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896
Green TCTN3 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green TCTN3 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services KidGen_CilioNephronop v38.1.0 Expert Review Green Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Mohr-Majewski syndrome Meckel-Gruber syndrome
Green TCTN3 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TCTN3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Expert Review Green Phenotypes Orofaciodigital syndrome IV 258860 Joubert syndrome 18 614815
Green TCTN3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 18, 614815 (3)
Green TCTN3 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OFD4 OROFACIODIGITAL SYNDROME IV
Green TCTN3 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 MONDO:0009794
Red TCTN3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Joubert syndrome
Green TCTN3 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 MONDO:0009794