Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 23761
Gene Symbol: PISD
PISD
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161

2019
Entrez Id: 9928
Gene Symbol: KIF14
KIF14
CUI: C0025958
Disease: Microcephaly
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: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker GENOMICS_ENGLAND A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. 29556033

2018
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0025958
Disease: Microcephaly
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: 83480
Gene Symbol: PUS3
PUS3
CUI: C0025958
Disease: Microcephaly
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: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C0025958
Disease: Microcephaly
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: 55704
Gene Symbol: CCDC88A
CCDC88A
CUI: C0025958
Disease: Microcephaly
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: 51075
Gene Symbol: TMX2
TMX2
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations. 31270415

2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
CUI: C0025958
Disease: Microcephaly
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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019
Entrez Id: 29081
Gene Symbol: METTL5
METTL5
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker GENOMICS_ENGLAND Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 31564433

2019
Entrez Id: 3376
Gene Symbol: IARS1
IARS1
CUI: C0025958
Disease: Microcephaly
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: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0025958
Disease: Microcephaly
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: 51569
Gene Symbol: UFM1
UFM1
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776

2018
Entrez Id: 51506
Gene Symbol: UFC1
UFC1
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker GENOMICS_ENGLAND Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. 29868776

2018
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.310 Biomarker GENOMICS_ENGLAND Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. 31555905

2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
CUI: C0025958
Disease: Microcephaly
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: 80254
Gene Symbol: CEP63
CEP63
CUI: C0025958
Disease: Microcephaly
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: 23476
Gene Symbol: BRD4
BRD4
CUI: C0025958
Disease: Microcephaly
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: 4047
Gene Symbol: LSS
LSS
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354

2017
Entrez Id: 833
Gene Symbol: CARS1
CARS1
CUI: C0025958
Disease: Microcephaly
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: 8295
Gene Symbol: TRRAP
TRRAP
CUI: C0025958
Disease: Microcephaly
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