Coarse facial features including Coffin-Siris-like disorders

Gene: MAGEL2

Red List (low evidence)

MAGEL2 (MAGE family member L2)
EnsemblGeneIds (GRCh38): ENSG00000254585
EnsemblGeneIds (GRCh37): ENSG00000254585
OMIM: 605283, Gene2Phenotype
MAGEL2 is in 8 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Coarse facial features not major presenting feature
Created: 23 Nov 2016, 10:52 a.m.

alisdair mcneill (Sheffield childrens hospital)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Schaaf Yang
OMIM
605283
Clinvar variants
Variants in MAGEL2
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

MAGEL2 was created by alicegardham

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

MAGEL2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature