TCF12

transcription factor 12
OMIM: 600480, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green TCF12 in Hydrocephalus


Level 2: Neurology
Version 5.18
Latest signed off version: v5.14 (12 Aug 2026)

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 (GMS)


Level 2: Endocrinology
Version 5.4
Latest signed off version: v5.3 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Craniosynostosis 3, 615314
  • Kallman syndrome, MONDO:0018800
Green TCF12 in Common craniosynostosis syndromes


Level 2: Musculoskeletal
Version 1.19
Latest signed off version: v1.18 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniosynostosis 3 OMIM:615314
Amber TCF12 in Differences in sex development


Level 2: Endocrinology
Version 4.23
Latest signed off version: v4.22 (12 Aug 2026)

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 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

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


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CORONAL CRANIOSYNOSTOSIS
    Green TCF12 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 Clefting


    Level 2: Musculoskeletal
    Version 7.10
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Craniosynostosis 3, OMIM:615314
    Red TCF12 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

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