×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
30690204 2020
×
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations.
31270415 2019
×
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
31422819 2019
×
Entrez Id: 23761
Gene Symbol: PISD
PISD
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.30858161 2019
×
Entrez Id: 23476
Gene Symbol: BRD4
BRD4
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
30302754 2019
×
Entrez Id: 833
Gene Symbol: CARS1
CARS1
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
30824121 2019
×
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
31422819 2019
×
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations.
31270415 2019
×
Entrez Id: 84628
Gene Symbol: NTNG2
NTNG2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
31668703 2019
×
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
30392057 2019
×
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
29904178 2018
×
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.
29669219 2018
×
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: 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: 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: 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
×
Entrez Id: 29081
Gene Symbol: METTL5
METTL5
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
31564433 2019
×
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
31555905 2019
×
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
29556033 2018
×
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: 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: 51294
Gene Symbol: PCDH12
PCDH12
Microcephaly
0.310
Biomarker
GENOMICS_ENGLAND
×
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