Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: MEGF8EnsemblGeneIds (GRCh38): ENSG00000105429
EnsemblGeneIds (GRCh37): ENSG00000105429
OMIM: 604267, Gene2Phenotype
MEGF8 is in 6 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Andrew Wilkie (University of Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- 614976
- Carpenter 2 614976
- OMIM
- 604267
- Clinvar variants
- Variants in MEGF8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Carpenter 2 614976 for gene: MEGF8
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to MEGF8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for MEGF8 were set to 614976
Set publications
Richard Scott (Genomics England Curator)Publications for MEGF8 were set to 23063620
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for MEGF8 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MEGF8 was added to Craniosynostosis syndromespanel. Sources: Expert list