TCF12

transcription factor 12
OMIM: 600480, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TCF12 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis 3, OMIM:615314

Amber TCF12 in Hypogonadotropic hypogonadism idiopathic


Version 1.44
Latest signed off version: v1.4 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniosynostosis 3, 615314
  • Kallman syndrome, MONDO:0018800
Tags
  • Q2_21_rating

Green TCF12 in Common craniosynostosis syndromes


Version 1.13
Latest signed off version: v1.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis 3 OMIM:615314

Amber TCF12 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.49
Latest signed off version: v2.2 (3 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kallmann syndrome
Tags
  • watchlist

No list TCF12 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.126
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Craniosynostosis 3 615314
    Tags
    • curated_removed

    Green TCF12 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORONAL CRANIOSYNOSTOSIS

    Green TCF12 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Craniosynostosis 3, 615314
    • Craniosynostosis 3

    Green TCF12 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORONAL CRANIOSYNOSTOSIS

    Red TCF12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Craniosynostosis 3, 615314

    Green TCF12 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Craniosynostosis 3, 615314