×
Entrez Id:
10293
Gene Symbol:
TRAIP
TRAIP
Microcephaly
0.610
Biomarker
GENOMICS_ENGLAND
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
26595769
2016
×
Entrez Id:
80254
Gene Symbol:
CEP63
CEP63
Microcephaly
0.600
Biomarker
GENOMICS_ENGLAND
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.
26158450
2015
×
Entrez Id:
1859
Gene Symbol:
DYRK1A
DYRK1A
Microcephaly
0.500
Biomarker
GENOMICS_ENGLAND
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
25944381
2015
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
Microcephaly
0.470
Biomarker
GENOMICS_ENGLAND
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
11779494
2001
×
Entrez Id:
10479
Gene Symbol:
SLC9A6
SLC9A6
Microcephaly
0.440
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1968
Gene Symbol:
EIF2S3
EIF2S3
Microcephaly
0.430
Biomarker
GENOMICS_ENGLAND
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
28055140
2017
×
Entrez Id:
51569
Gene Symbol:
UFM1
UFM1
Microcephaly
0.420
Biomarker
GENOMICS_ENGLAND
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
29868776
2018
×
Entrez Id:
55835
Gene Symbol:
CENPJ
CENPJ
Microcephaly
0.420
Biomarker
GENOMICS_ENGLAND
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
16900296
2006
×
Entrez Id:
9928
Gene Symbol:
KIF14
KIF14
Microcephaly
0.420
Biomarker
GENOMICS_ENGLAND
KIF14 may also be considered a candidate gene for allelic viable ciliary and/or microcephaly phenotypes.
24128419
2014
×
Entrez Id:
84706
Gene Symbol:
GPT2
GPT2
Microcephaly
0.420
Biomarker
GENOMICS_ENGLAND
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
25758935
2015
×
Entrez Id:
54517
Gene Symbol:
PUS7
PUS7
Microcephaly
0.410
Biomarker
GENOMICS_ENGLAND
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
30526862
2018
×
Entrez Id:
1063
Gene Symbol:
CENPF
CENPF
Microcephaly
0.410
Biomarker
GENOMICS_ENGLAND
The kinetochore protein, CENPF , is mutated in human ciliopathy and microcephaly phenotypes.
25564561
2015
×
Entrez Id:
8021
Gene Symbol:
NUP214
NUP214
Microcephaly
0.410
Biomarker
GENOMICS_ENGLAND
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
30758658
2019
×
Entrez Id:
7468
Gene Symbol:
NSD2
NSD2
Microcephaly
0.410
Biomarker
GENOMICS_ENGLAND
Small 4p16.3 deletions: Three additional patients and review of the literature.
30244530
2018
×
Entrez Id:
8295
Gene Symbol:
TRRAP
TRRAP
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
28628100
2017
×
Entrez Id:
8295
Gene Symbol:
TRRAP
TRRAP
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
30424743
2018
×
Entrez Id:
23397
Gene Symbol:
NCAPH
NCAPH
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
27737959
2016
×
Entrez Id:
83480
Gene Symbol:
PUS3
PUS3
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
27055666
2016
×
Entrez Id:
1781
Gene Symbol:
DYNC1I2
DYNC1I2
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Our genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment.
31079899
2019
×
Entrez Id:
51506
Gene Symbol:
UFC1
UFC1
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
29868776
2018
×
Entrez Id:
3376
Gene Symbol:
IARS1
IARS1
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
27426735
2016
×
Entrez Id:
9326
Gene Symbol:
ZNHIT3
ZNHIT3
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
28335020
2017
×
Entrez Id:
10056
Gene Symbol:
FARSB
FARSB
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
30014610
2018
×
Entrez Id:
10735
Gene Symbol:
STAG2
STAG2
Microcephaly
0.400
Biomarker
GENOMICS_ENGLAND
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.
25450604
2015
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
30459466
2019