TCTN2:Ensemblv115

tectonic family member 2
OMIM: 613846, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TCTN2 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 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 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 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 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 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 Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Meckel syndrome 8 613885 Joubert syndrome 24 616654
Green TCTN2 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 24
Green TCTN2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 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 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482
Green TCTN2 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 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482