1. Genes and Genomic Entities
  2. ERF

ERF

ETS2 repressor factor
OMIM: 611888, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green ERF in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis 4, OMIM:600775
Tags
  • to_be_confirmed_NHSE
Green ERF in Common craniosynostosis syndromes


Version 1.15
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 4 OMIM:600775
Green ERF in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Chitayat syndrome - 617180
    • Craniosynostosis 4 600775
    Green ERF in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Craniosynostosis 4, 600775
    Green ERF in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chitayat syndrome, 617180
    • Craniosynostosis 4, 600775