×
Entrez Id:
10479
Gene Symbol:
SLC9A6
SLC9A6
Microcephaly
0.440
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
×
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:
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:
51294
Gene Symbol:
PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta.
18477666
2008
×
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:
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:
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:
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:
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:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
26163108
2015
×
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:
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:
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:
51294
Gene Symbol:
PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
27164683
2016
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
27164683
2016
×
Entrez Id:
392636
Gene Symbol:
AGMO
AGMO
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
27000257
2016
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
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:
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:
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:
4047
Gene Symbol:
LSS
LSS
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Congenital cataract with LSS gene mutations: a new case report.
29016354
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