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  3. MEGF8
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Craniosynostosis

Gene: MEGF8

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome, MIM#614976

Created: 23 Oct 2020, 5:10 a.m.
Last Modified: 23 Oct 2020, 5:10 a.m.
Panel version: 1.4

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis is a key feature of Carpenter syndrome - identified in 4/4 unrelated individuals with MEGF8 biallelic variants
Sources: Literature
Created: 17 Jun 2020, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carpenter syndrome

Publications

Created: 17 Jun 2020, 10:11 a.m.

Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carpenter syndrome, MIM#614976
OMIM
604267
Clinvar variants
Variants in MEGF8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MEGF8 were changed from Carpenter syndrome to Carpenter syndrome, MIM#614976

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

17 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tiong Tan (Victorian Clinical Genetics Services)

gene: MEGF8 was added gene: MEGF8 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF8 were set to 23063620 Phenotypes for gene: MEGF8 were set to Carpenter syndrome Penetrance for gene: MEGF8 were set to Complete Review for gene: MEGF8 was set to GREEN