GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ERF

ERF (ETS2 repressor factor)
EnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Craniosynostosis syndrome gp of SD. Chitayat - bilateral accessory phalanx resulting in shortened index fingers with ulnar devaiation: Y89C variant only . Several cases reported for both pehnotypes. Specific variant only for Chitayat syndrome Y89C. Do you report variants in this gene as part of your current diagnostic practice? yes - for CSS and Chitayat syndrome; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4 600775; Chitayat syndrome - 617180

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Chitayat syndrome - 617180
Craniosynostosis 4 600775

OMIM

611888

Clinvar variants

Variants in ERF

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ERF was added gene: ERF was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERF were set to Chitayat syndrome - 617180; Craniosynostosis 4 600775

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ERF