TBX22

T-box 22
OMIM: 300307, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red TBX22 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly ?Abruzzo-Erickson syndrome, 302905 Cleft palate with ankyloglossia, 303400 Radioulnar synostosis upper limb anomalies clinodactyly
Amber TBX22 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Abruzzo-Erickson syndrome, OMIM:302905 Cleft palate with ankyloglossia, OMIM:303400
Green TBX22 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEFT PALATE, X-LINKED 304011
Green TBX22 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cleft palate with ankyloglossia, 303400 sub mucous cleft palate cleft lip CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED CPX Cleft palate
Red TBX22 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cleft palate with ankyloglossia, 303400 ?Abruzzo-Erickson syndrome, 302905
Red TBX22 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Phenotypes ?Abruzzo-Erickson syndrome, 302905