TCTEX1D2

Tctex1 domain containing 2
OMIM: 617353, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TCTEX1D2 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	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 Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) 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 1.31	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 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	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 1.180	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 2: Musculoskeletal Version 6.7 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Tags new-gene-name