Clefting
Gene: EIF2S3

EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000130741
EnsemblGeneIds (GRCh37): ENSG00000130741
OMIM: 300161, Gene2Phenotype
EIF2S3 is in 8 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Three reported cases to date. One patient with cleft lip and palate therefore include
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE
MRXSBRK

OMIM

300161

Clinvar variants

Variants in EIF2S3

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF2S3 was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created