Clefting
Gene: SMS

SMS (spermine synthase)
EnsemblGeneIds (GRCh38): ENSG00000102172
EnsemblGeneIds (GRCh37): ENSG00000102172
OMIM: 300105, Gene2Phenotype
SMS is in 6 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Four cases in OMIM and clefting is a reported feature
Created: 26 May 2017, 7:17 a.m.

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

Phenotypes
MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Details

Mode of Inheritance

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

Sources

Expert Review Green

Phenotypes

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
MRXSSR

OMIM

300105

Clinvar variants

Variants in SMS

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: 0

Created

Helen Brittain (Genomics England Curator)

SMS was created by helen.brittain

26 May 2017, Gel status: 4

Added New Source