3 cases with variants and non-syndromic coronal synostosis. All variants were inherited from a clinically unaffected parent and are in gnomAD - too common to be highly penetrant ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
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: EFNA4; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Significance of variants in Merrill 2006 paper uncertain because they are also listed in Exome Aggregation Consortium dataset
Created: 14 Sep 2015, 12:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to EFNA4.
This gene has been classified as Red List (Low Evidence).
EFNA4 was added to Craniosynostosis syndromespanel. Sources: Expert list