Severe microcephaly

Gene: EOMES

Red List (low evidence)

EOMES (eomesodermin)
EnsemblGeneIds (GRCh38): ENSG00000163508
EnsemblGeneIds (GRCh37): ENSG00000163508
OMIM: 604615, Gene2Phenotype
EOMES is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

PMID 17353897 - autosomal recessive microcephaly syndrome in a family cosegregated with a homozygous balanced translocation between chromosomes 3p and 10q which was shown to silence EOMES.
Created: 18 Dec 2017, 1:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • microcephaly syndrome
OMIM
604615
Clinvar variants
Variants in EOMES
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EOMES were set to microcephaly syndrome

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EOMES was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EOMES was created by Ellen McDonagh