ERF

ETS2 repressor factor
OMIM: 611888, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ERF in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 4, MIM# 600775

Green ERF in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 4, MIM# 600775
  • Chitayat syndrome, MIM# 617180
  • Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related

Green ERF in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related

Green ERF in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Chitayat syndrome, MIM#617180
  • Craniosynostosis 4, MIM#600775

Green ERF in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Green ERF in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Chitayat syndrome, MIM#617180
  • Craniosynostosis 4, MIM#600775

Amber ERF in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Expert list
Phenotypes
  • Craniosynostosis 4, MIM# 600775