Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: MEGF8
CSS well defined part of syndrome ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter 2 614976
Publications
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: MEGF8; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Mutation combinations likely hypomorphic with complete loss of function lethal. Not in current diagnostic panels because of large size of gene.Created: 15 Sep 2015, 7:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome
Publications
Added phenotypes Carpenter 2 614976 for gene: MEGF8
Source NHS GMS was added to MEGF8. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for MEGF8 were set to 614976
Publications for MEGF8 were set to 23063620
Mode of inheritance for MEGF8 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MEGF8 was added to Craniosynostosis syndromespanel. Sources: Expert list