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| 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 v0.177 | 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 v0.126 | ZEB2 | Zornitza Stark Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME; MOWS to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.124 | ZEB2 | Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384, 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME; MOWS |
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| Clefting disorders v0.0 | SON |
Zornitza Stark gene: SON was added gene: SON was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SON were set to 27545680 Phenotypes for gene: SON were set to ZTTK SYNDROME; ZTTKS |
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| 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 |
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| Clefting disorders v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 |
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