Skeletal dysplasia
Gene: MEGF8
Craniosynostosis syndrome gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 2 614976
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; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 29 Jul 2016, 7:24 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 2 614976
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Carpenter syndrome 2 614976 for gene: MEGF8
Source NHS GMS was added to MEGF8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for MEGF8 were set to Carpenter syndrome 2 614976
Mode of inheritance for MEGF8 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for MEGF8 was changed to BIALLELIC, autosomal or pseudoautosomal
MEGF8 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
MEGF8 was created by sleigh
MEGF8 was added to Unexplained skeletal dysplasiapanel. Sources: