TCF12

transcription factor 12
OMIM: 600480, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TCF12 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 3, MIM# 615314

Green TCF12 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718
  • Kallmann syndrome

Green TCF12 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.123

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TCF12 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 3, MIM# 615314
  • Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718
  • Kallman syndrome

Red TCF12 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Green TCF12 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Craniosynostosis 3, MIM# 615314