SMS

spermine synthase
OMIM: 300105, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SMS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Green SMS in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SNYDER-ROBINSON SYNDROME 309583
Red SMS in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green SMS in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE MRXSSR
Green SMS in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Phenotypes Mental retardation, X-linked, Snyder-Robinson type 309583
Green SMS in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 SNYDER-ROBINSON SYNDROME (SRS)