TCF12

transcription factor 12
OMIM: 600480, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TCF12 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.73

1 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 1.27

1 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 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TCF12 in Mendeliome


Version 1.3795

2 reviews 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

Green TCF12 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

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

Red TCF12 in Incidentalome_PREGEN_DRAFT


Version 0.43

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Green TCF12 in Fetal anomalies


Version 1.482

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

Green TCF12 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

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