Limb disorders
Gene: MEGF8EnsemblGeneIds (GRCh38): ENSG00000105429
EnsemblGeneIds (GRCh37): ENSG00000105429
OMIM: 604267, Gene2Phenotype
MEGF8 is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 2 614976
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Carpenter syndrome 2 614976
- OMIM
- 604267
- Clinvar variants
- Variants in MEGF8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: megf8 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to MEGF8. Mode of inheritance for gene MEGF8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Carpenter syndrome 2 614976 for gene: MEGF8 Publications for gene MEGF8 were changed from to 23063620 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Ellen McDonagh (Genomics England Curator)MEGF8 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)MEGF8 was created by Ellen McDonagh