TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TCTEX1D2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green TCTEX1D2 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Green TCTEX1D2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Green TCTEX1D2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Green TCTEX1D2 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405
Green TCTEX1D2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405
Green TCTEX1D2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 JATD Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405