SMS

spermine synthase
OMIM: 300105, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SMS in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Green SMS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation X-linked Snyder-Robinson type, 309583
Green SMS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Green SMS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Green SMS in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Red SMS in Fetal anomalies Version 1.313	1 review	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
Green SMS in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583