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Clefting disorders v0.179 SMS Zornitza Stark Marked gene: SMS as ready
Clefting disorders v0.179 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Clefting disorders v0.179 SMS Zornitza Stark Phenotypes for gene: SMS were changed from MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Clefting disorders v0.178 SMS Zornitza Stark Publications for gene: SMS were set to
Clefting disorders v0.177 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting disorders v0.0 RAI1 Zornitza Stark gene: RAI1 was added
gene: RAI1 was added to Clefting_GEL. Sources: Expert Review Red
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMS; SMITH-MAGENIS SYNDROME
Clefting disorders v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Clefting_GEL. Sources: Expert Review Green
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 MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE