Skeletal dysplasia

Gene: ERF

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, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4 600775; Chitayat syndrome - 617180

Publications

• 23354439
• 26097063

Mode of pathogenicity
Other - please provide details in the comments

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

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ERF; Initial rating suggestion: green - on CSS panel but also green here for Chitayat (specific variant only)

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.

Created: 7 Jul 2016, 8:19 a.m.

Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)

Created: 7 Jul 2016, 8:16 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4 600775

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