TTC21B:Ensemblv115

tetratricopeptide repeat domain 21B
OMIM: 612014, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green TTC21B in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	3 reviews	Unknown	Sources Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Expert Review Green Victorian Clinical Genetics Services KidGen_CilioNephronop v38.1.0 Expert list Genomics England PanelApp Expert Review Green
Green TTC21B in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Joubert syndrome
Red TTC21B in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Heterotaxy
Red TTC21B in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Red
Green TTC21B in Proteinuria Level 2: Renal and urinary tract disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Glomerular disorder (MONDO:0019722), TTC21B-related
Green TTC21B in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services
Green TTC21B in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819)
Green TTC21B in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_CilioNephronop v38.1.0 Expert Review Green Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Green TTC21B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory NHS GMS Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes SRTD4 Asphyxiating Thoracic Dystrophy Nephronophthisis 12, 613820
Green TTC21B 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 Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Green TTC21B in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Amber TTC21B 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 Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY SRTD4
Green TTC21B in Fetal anomalies Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_CilioNephronop v38.1.0 Expert list Genomics England PanelApp Expert Review Green Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Green TTC21B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819