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DDG2P

Gene: ERF

Green List (high evidence)

ERF (ETS2 repressor factor)
EnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, loss of function
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
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
OMIM
611888
Clinvar variants
Variants in ERF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF Publications for gene ERF were changed from 23354439 to 27738187

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ERF was added gene: ERF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERF were set to 23354439 Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS