Limb disordersGene: MEGF8
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
Carpenter syndrome 2 614976
Sarah Leigh: Associated with relevant pheno
Gene: megf8 has been classified as Green List (High Evidence).
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)
MEGF8 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
MEGF8 was created by Ellen McDonagh