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Limb disorders

Gene: MEGF8

Green List (high evidence)

MEGF8 (multiple EGF like domains 8)
EnsemblGeneIds (GRCh38): ENSG00000105429
EnsemblGeneIds (GRCh37): ENSG00000105429
OMIM: 604267, Gene2Phenotype
MEGF8 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: megf8 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

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)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MEGF8 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MEGF8 was created by Ellen McDonagh