PONTOCEREBELLAR HYPOPLASIA, TYPE 11
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
|
28397838 |
2018 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
|
28823707 |
2017 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
|
28823706 |
2017 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 11
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7 and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID.
|
28397838 |
2018 |
Pontoneocerebellar hypoplasia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations of TBC1D23 have been found recently to lead to PCH; however, the underlying molecular mechanisms remain unclear.
|
31624125 |
2019 |
Pontoneocerebellar hypoplasia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia.
|
28823707 |
2017 |
Pontoneocerebellar hypoplasia
|
0.130 |
CausalMutation
|
disease |
CLINVAR |
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
|
28823707 |
2017 |
Pontoneocerebellar hypoplasia
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Altogether, this study provides a causative link between TBC1D23 mutations and PCH and suggests a less severe clinical course than other PCH subtypes.
|
28823706 |
2017 |
Microcephaly
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly.
|
28823707 |
2017 |
Severe intellectual disability
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Here we report three families with homozygous truncating mutations in TBC1D23 who display moderate to severe intellectual disability and microcephaly.
|
28823707 |
2017 |
Microcephaly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Severe intellectual disability
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital ocular coloboma (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Esotropia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Stereotyped Behavior
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Stereotypic Movement Disorder
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyporeflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Macrotia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Bulbous nose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|