×
Entrez Id:
1911
Gene Symbol:
PHC1
PHC1
Primary microcephaly
0.410
Biomarker
GENOMICS_ENGLAND
Molecular and cellular basis of autosomal recessive primary microcephaly.
25548773
2014
×
Entrez Id:
79648
Gene Symbol:
MCPH1
MCPH1
Primary microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
259266
Gene Symbol:
ASPM
ASPM
Primary microcephaly
0.390
Biomarker
GENOMICS_ENGLAND
CDK5RAP2
Primary microcephaly
0.370
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
284403
Gene Symbol:
WDR62
WDR62
Primary microcephaly
0.370
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6491
Gene Symbol:
STIL
STIL
Primary microcephaly
0.350
Biomarker
GENOMICS_ENGLAND
STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus.
25218063
2015
×
Entrez Id:
25914
Gene Symbol:
RTTN
RTTN
Primary microcephaly
0.350
Biomarker
GENOMICS_ENGLAND
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
22939636
2012
×
Entrez Id:
57082
Gene Symbol:
KNL1
KNL1
Primary microcephaly
0.320
Biomarker
GENOMICS_ENGLAND
Kinetochore KMN network gene CASC5 mutated in primary microcephaly .
22983954
2012
×
Entrez Id:
93587
Gene Symbol:
TRMT10A
TRMT10A
Primary microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
26535115
2015
×
Entrez Id:
55835
Gene Symbol:
CENPJ
CENPJ
Primary microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
16900296
2006
×
Entrez Id:
22995
Gene Symbol:
CEP152
CEP152
Primary microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
9662
Gene Symbol:
CEP135
CEP135
Primary microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
25886
Gene Symbol:
POC1A
POC1A
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
26791357
2016
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.
26968164
2016
×
Entrez Id:
80254
Gene Symbol:
CEP63
CEP63
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.
26158450
2015
×
Entrez Id:
10733
Gene Symbol:
PLK4
PLK4
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
25344692
2014
×
Entrez Id:
1804
Gene Symbol:
DPP6
DPP6
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
23832105
2013
×
Entrez Id:
85378
Gene Symbol:
TUBGCP6
TUBGCP6
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
22279524
2012
×
Entrez Id:
54820
Gene Symbol:
NDE1
NDE1
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
21529752
2011
×
Entrez Id:
5932
Gene Symbol:
RBBP8
RBBP8
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
10426
Gene Symbol:
TUBGCP3
TUBGCP3
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
11113
Gene Symbol:
CIT
CIT
Primary microcephaly
0.300
Biomarker
GENOMICS_ENGLAND