Names of Genes - Microcephaly category

Gene	Chromosome	Location	Syndrome
AAAS	12	q13.13	Microcephaly - other
ABCD4	14	q24.3	Microcephaly - other
ACADS	12	q24.31	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
ACSF3	16	q24.3	Combined malonic and methylmalonic aciduria (CMAMMA)
ADSL	22	q13.1	Microcephaly - other
AFF4	5	q31.1	Microcephaly - other
AKT3	1	q44	Microcephaly - other
ALG12	22	q13.33	Microcephaly - other
AMPD2	1	p13.3	Pontocerebellar hypoplasia
ANKLE2	12	q24	Microcephaly - other
ARFGEF2	20	q13.13	Periventricular heterotopia
ARID1A	1	p36.11	Microcephaly - other
ARID1B	6	q25.3	Microcephaly - other
ASPM	1	q31	Autosomal recessive primary microcephaly
ATRX	23	q21.1 - al	Microcephaly - other
ATRX	23	q21.1	Microcephaly - other
BRAT1	7	p22.3	Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL)
BRCA2	13	q13.1	Microcephaly - other
BRIP1	17	q23.2	Microcephaly - other
CASC5	15	q14	Microcephaly - other
CASK	23	p11.4	CASK-related intellectual disability
CCBE1	18	q21.32	Microcephaly - other
CDC6	17	q21.3	Meier-Gorlin syndrome
CDK5RAP2	9	q33.2	Autosomal recessive primary microcephaly
CDK6	7	q21-q22	Microcephaly 12 primary autosomal recessive (MCPH12)
CDT1	16	q24.3	Meier-Gorlin syndrome
CENPE	4	q24-q25	Microcephaly 13 primary autosomal recessive (MCPH13)
CENPJ	13	q12.12	Autosomal recessive primary microcephaly
CEP135	4	q12	Microcephaly 08 primary autosomal recessive (MCPH8)
CEP152	15	q21.1	Autosomal recessive primary microcephaly
CHMP1A	16	q24.3	Pontocerebellar hypoplasia
CHRNA1	2	q31.1	Microcephaly - other
CHRND	2	q37.1	Microcephaly - other
CHRNG	2	q37.1	Microcephaly - other
CIT	12	q24	Microcephaly - other
CKAP2L	2	q14.1	Microcephaly - other
CLP1	11	q12	Pontocerebellar hypoplasia
COG5	7	q31	Congenital disorder of glycosylation
COL4A1	13	q34	Familial porencephaly
CRIPT	2	p21	Short stature with microcephaly and distinctive facies (SSMF)
CTNND2	5	p15.2	Cri-du-chat (cat`s cry) syndrome
CTSD	11	p15.5	Congenital neuronal ceroid lipofuscinosis (NCL)
CYB5R3	22	q13.2	Microcephaly - other
DCX	23	q23	Microcephaly - other
DDX11	12	p11	Warsaw breakage syndrome
DHCR7	11	q13.4	Microcephaly - other
DISP1	1	q41	Microcephaly - other
DPYD	1	p21.3	Microcephaly - other
EFTUD2	17	q21.31	Mandibulofacial dysostosis with microcephaly
EHMT1	9	q34.3	Microcephaly - other
EMG1	12	p13.31	Microcephaly - other
ERCC6	10	q11.23	Cockayne syndrome
ERCC8	5	q12.1	Cockayne syndrome
ESCO2	8	p21.1	Microcephaly - other
EXOSC3	9	p11	Pontocerebellar hypoplasia
FANCA	16	q24.3	Microcephaly - other
FANCB	23	p22.2	Microcephaly - other
FANCC	9	q22.32	Microcephaly - other
FANCD2	3	p25.3	Microcephaly - other
FANCE	6	p21.31	Microcephaly - other
FANCF	11	p14.3	Microcephaly - other
FANCG	9	p13.3	Microcephaly - other
FANCI	15	q26.1	Microcephaly - other
FANCL	2	p16.1	Microcephaly - other
FANCM	14	q21.2	Microcephaly - other
FAR1	11	p15.3	Microcephaly - other
FAT4	4	q28.1	Microcephaly - other
FGF8	10	q24.32	Microcephaly - other
FH	1	q42.1	Fumarase deficiency
FLNA	23	q28	Periventricular heterotopia
FOXG1	14	q12	Microcephaly - other
FOXH1	8	q24.3	Microcephaly - other
FOXL2	3	q22.3	Microcephaly - other
GJA1	6	q22.31	Oculodentodigital dysplasia
GLI2	2	q14.2	Microcephaly - other
GPHN	14	q22.3	Molybdenum cofactor deficiency
HBA1	16	p13.3	Alpha thalassemia
HBA2	16	p13.3	Alpha thalassemia
HCFC1	23	q28	Microcephaly - other
HDAC8	23	q13.1	Microcephaly - other
IER3IP1	18	q12	Microcephaly epilepsy and diabetes syndrome
KAT6B	10	q22.2	Microcephaly - other
KCNT1	9	q34.3	Microcephaly - other
KDM6A	23	p11.3	Microcephaly - other
KMT2D	12	q13.12	Microcephaly - other
KNL1	15	q15.1	Microcephaly - other
LETM1	4	p16.3	Microcephaly - other
LMBRD1	6	q13	Microcephaly - other
MBD5	2	q23.1	Microcephaly - other
MCPH1	8	p23.1	Autosomal recessive primary microcephaly
MECP2	23	q28.1	Microcephaly - other
MED17	11	q14	Microcephaly postnatal progressive with seizures and brain atrophy
MFSD2A	1	p34.2	Microcephaly - other
MMACHC	1	P34.1	Microcephaly - other
MMSDHC	2	q23.2	Microcephaly - other
MOCS1	6	p21.3	Molybdenum cofactor deficiency
MOCS2	5	q11	Molybdenum cofactor deficiency
MSX1	4	p16.2	Microcephaly - other
MT-ATP6	0	8527-9207	Leigh syndrome
MVK	12	q24.11	Mevalonate kinase deficiency
MYCN	2	p24.3	Feingold syndrome
NADK	1	p36.33	Microcephaly - other
NADK2	5	p13.2	Microcephaly - other
NBN	8	q21	Nijmegen breakage syndrome
NDE1	16	p13.11	Microcephaly - other
NIPBL	5	p13.2	Microcephaly - other
NODAL	10	q22.1	Microcephaly - other
NSD2	4	p16.3	Microcephaly - other
OCA2	15	q13.1	Microcephaly - other
ORC1	1	p32	Meier-Gorlin syndrome
ORC4	2	q22-23	Meier-Gorlin syndrome
ORC6	16	q12	Meier-Gorlin syndrome
PAFAH1B1	17	p13.3	Microcephaly - other
PAH	12	q23.2	Microcephaly - other
PALB2	16	P12.2	Microcephaly - other
PCNT	21	q22.3	Osteodysplastic primordial dwarfism type II
PHC1	12	q13	Microcephaly 11 primary autosomal recessive (MCPH11)
PHGDH	1	p12	Phosphoglycerate dehydrogenase deficiency
PLK4	4	q28	Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2)
PNKP	19	q13.3-13.4	Microcephaly seizures and developmental delay (MCSZ)
PPP1R15B	1	q32.1	Microcephaly - other
PPT1	1	p32	Infantile neuronal ceroid lipofuscinosis
PQBP1	23	p11.23	Renpenning syndrome
PTCH1	9	q22.32	Microcephaly - other
PTRH2	17	q23.1	Microcephaly - other
QARS	3	p21.31	Microcephaly progressive with seizures cerebral/cerebellar atrophy (MSCCA)
RAD21	8	q24.11	Microcephaly - other
RAD51C	17	q22	Microcephaly - other
RAPSN	11	p11.2	Microcephaly - other
RARS2	6	q16.1	Pontocerebellar hypoplasia
RNASEH2A	19	p13.13	Microcephaly - other
RNASEH2B	13	q14.3	Microcephaly - other
RNASEH2C	11	q13.1	Microcephaly - other
RNASET2	6	q27	Microcephaly - other
RPL11	1	p36.11	Microcephaly - other
RPL35A	3	q29	Microcephaly - other
RPL5	1	p22.1	Microcephaly - other
RPS10	6	p21.31	Microcephaly - other
RPS17	15	q25.2	Microcephaly - other
RPS19	19	q13.2	Microcephaly - other
RPS24	10	q22.3	Microcephaly - other
RPS26	12	q13.2	Microcephaly - other
RPS6KA3	23	p22.1-.2	Coffin-Lowry syndrome
RPS7	2	p25.3	Microcephaly - other
RRM2B	8	q22.3	Microcephaly - other
SAMHD1	20	q11.23	Microcephaly - other
SASS6	1	p21	Microcephaly - other
SCN1A	2	q24.3	Microcephaly - other
SEPSECS	4	p15.2	Pontocerebellar hypoplasia
SHH	7	q36.3	Microcephaly - other
SIX3	2	p21	Microcephaly - other
SLC1A4	2	p14	Microcephaly - other
SLC25A19	17	q25.3	Amish lethal microcephaly
SLC2A1	1	p34.2	Microcephaly - other
SLC6A8	23	q28	X-linked creatine deficiency
SLC9A6	23	q26.3	Christianson syndrome
SLX4	16	p13.3	Microcephaly - other
SMARCA2	9	p24.3	Microcephaly - other
SMARCA4	19	p13.2	Microcephaly - other
SMARCB1	22	q11.23	Microcephaly - other
SMARCE1	17	q21.2	Microcephaly - other
SMC1A	23	p11.22	Microcephaly - other
SMC3	10	q25.2	Microcephaly - other
SPR	2	p12-p14	Sepiapterin reductase deficiency
STAMBP	2	p13.1	Microcephaly-capillary malformation syndrome
STIL	1	p32	Autosomal recessive primary microcephaly
TBC1D24	16	p13.3	Microcephaly - other
TCF4	18	q21.2	Microcephaly - other
TDGF1	3	p21.31	Microcephaly - other
TGIF1	18	p11.31	Microcephaly - other
TREX1	3	p21.31	Microcephaly - other
TRMT10A	4	q23	Microcephaly short stature and impaired glucose metabolism
TSEN2	3	p25.2	Pontocerebellar hypoplasia
TSEN34	19	q13.4	Pontocerebellar hypoplasia
TSEN54	17	q25.1	Pontocerebellar hypoplasia
TUBA1A	12	q13.12	Microcephaly - other
TUBGCP4	15	q15.3	Microcephaly - other
TUBGCP6	22	q13.31-.33	Microcephaly and chorioretinopathy autosomal recessive 1 (MCCRP1)
UBE3A	15	q11.2	Microcephaly - other
UBE3B	12	q24.11	Microcephaly - other
UPB1	22	q11.2	Beta-ureidopropionase deficiency
VPS13B	8	q22.2	Cohen syndrome
VRK1	14	q32	Pontocerebellar hypoplasia
WDR62	19	q13.12	Autosomal recessive primary microcephaly
XRCC4	5	q14.2	Microcephaly - other
ZEB2	2	q22.3	Mowat-Wilson syndrome
ZIC2	13	q32.3	Microcephaly - other
ZNF335	20	q13.12	Microcephaly 10 primary autosomal recessive (MCPH10)

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