1. Genes and Genomic Entities
  2. ERF

ERF

ETS2 repressor factor
OMIM: 611888, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red ERF 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
  • Expert Review Red
  • NHS GMS
  • Literature
Phenotypes
  • Craniosynostosis 4, OMIM:600775
Green ERF 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 4 OMIM:600775
Green ERF 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, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Chitayat syndrome - 617180
    • Craniosynostosis 4 600775
    Green ERF 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
    • COMPLEX CRANIOSYNOSTOSIS
    • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia
    Green ERF 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 4, 600775
    • Craniosynostosis 4
    Green ERF 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
    • COMPLEX CRANIOSYNOSTOSIS
    • Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia
    Red ERF 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 4, 600775