MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
|
29967526 |
2018 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Biallelic variants in RTTN cause primary microcephaly in infants.
|
29967526 |
2018 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.
|
29356416 |
2018 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
These findings reveal that RTTN contributes to building full-length centrioles and illuminate the molecular mechanism through which the RTTN (A578P) mutation causes primary microcephaly.Mutations in many centriolar protein-encoding genes cause primary microcephaly.
|
28811500 |
2017 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
|
26940245 |
2016 |
Primary microcephaly
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
Primary microcephaly
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
|
22939636 |
2012 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
|
29883675 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Biallelic deleterious variants in RTTN, which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual disability, and primordial dwarfism in human infants.
|
29967526 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.
|
29356416 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |
Dwarfism
|
0.150 |
GeneticVariation
|
disease |
BEFREE |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
|
26608784 |
2015 |
Dwarfism
|
0.150 |
Biomarker
|
disease |
HPO |
|
|
|
Polymicrogyria
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations.
|
30121372 |
2018 |
Polymicrogyria
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.
|
29356416 |
2018 |