TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TCTEX1D2 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
No list TCTEX1D2 in Limb disorders Version 4.21 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Polydactyly Brachydactyly Tags new-gene-name curated_removed
No list TCTEX1D2 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags curated_removed
Green TCTEX1D2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags new-gene-name
Green TCTEX1D2 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
Green TCTEX1D2 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.171	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
Green TCTEX1D2 in Skeletal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.22 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
Red TCTEX1D2 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Tags new-gene-name
Green TCTEX1D2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Tags new-gene-name