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Fetal anomalies

Gene: SMS

Red List (low evidence)

SMS (spermine synthase)
EnsemblGeneIds (GRCh38): ENSG00000102172
EnsemblGeneIds (GRCh37): ENSG00000102172
OMIM: 300105, Gene2Phenotype
SMS is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

X-linked syndromic intellectual developmental disorder with characteristic features including dysmorphism, marfanoid habitus, unsteady gait, nasal dysarthric speech, diminished muscle mass, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia. Does not present antenatally. Not suitable for fetal anomalies panel.
Created: 14 Jan 2022, 5:59 a.m. | Last Modified: 14 Jan 2022, 6 a.m.
Panel Version: 0.2215

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583
  • Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
OMIM
300105
Clinvar variants
Variants in SMS
Penetrance
None
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sms has been classified as Red List (Low Evidence).

14 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: sms has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMS was added gene: SMS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664