Intellectual Disability
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age.
|
31353455 |
2019 |
Intellectual Disability
|
0.310 |
Biomarker
|
group |
BEFREE |
Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1-related ID, and describe the disease in a much older age.
|
31353455 |
2019 |
Congenital anomaly of face
|
0.010 |
GeneticVariation
|
group |
BEFREE |
By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38-year-old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism.
|
31353455 |
2019 |
Central hypotonia
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
|
31353455 |
2019 |
Abnormality of the face
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
|
31353455 |
2019 |
melanoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation.
|
22535842 |
2012 |
Global developmental delay
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
|
31353455 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
SMR single gene analysis identified one significant and four suggestive genes associated with ALS, including C9ORF72 (P value = 7.08 × 10<sup>-6</sup>), NT5C3L (P value = 1.33 × 10<sup>-5</sup>), GGNBP2 (P value = 1.81 × 10<sup>-5</sup>), ZNHIT3(P value = 2.94 × 10<sup>-5</sup>), and KIAA1600(P value = 9.97 × 10<sup>-5</sup>).
|
28639078 |
2018 |
Microcephaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
|
31353455 |
2019 |