Names of Genes on Chromosome 8

Gene Location Syndrome Category
MRD32p11.21MENTAL RETARDATION AUTOSOMAL DOMINANT 32Autism spectrum
POMKp11.21Walker-Warburg syndromeMicrophthalmia
RNF170p11.21Ataxia sensory autosomal dominant type 01Ataxia spectrum
SLC20A2p11.21Familial idiopathic basal ganglia calcificationAtaxia spectrum
FGFR1p11.22-23Kallmann syndrome types 1 and 2Cleft lip / cleft palate
FGFR1p11.23ECCL Encephalocraniocutaneous lipomatosisAlopecia
PLPBPp11.23Epilepsy early-onset vitamin B6-dependentEpilepsy and seizures
GSRp12gamma-Glutamyltransferase deficiencyPolymorphous light eruption
WRNp12Thyroid disordersHypothyroidism
WRNp12Werner syndromeCataracts
WRNp12Type 2 DiabetesDiabetes
ESCO2p21.1Roberts syndromeCleft lip / cleft palate
ESCO2p21.1Microcephaly - otherMicrocephaly
CHRNA2p21.2Autosomal dominant nocturnal frontal lobe epilepsyEpilepsy and seizures
HRp21.3Hypotrichosis 4Alopecia
HRp21.3Atrichia with papular lesionsAlopecia
HRp21.3Thyroid disordersHypothyroidism
HRp21.3Alopecia universalis congenita (ALUNC)Alopecia
LPLp21.3Familial lipoprotein lipase deficiencyHyperlipidemia
ASAH1p22Spinal muscular atrophy with progressive myoclonic epilepsyEpilepsy and seizures
MRT7p22MENTAL RETARDATION AUTOSOMAL RECESSIVE 7Autism spectrum
MSR1p22Alzheimer - late onsetAlzheimer Syndrome
PCM1p22Thyroid disordersHypothyroidism
BLKp23.1Rheumatoid arthritisArthritis
GATA4p23.1heterotaxy syndromeHeterotaxy
LONRF1p23.1Autism 18 (AUTS18)Autism spectrum
MCPH1p23.1Autosomal recessive primary microcephalyMicrocephaly
MIR3926-1p23.1Autism 18 (AUTS18)Autism spectrum
MIR3926-2p23.1Autism 18 (AUTS18)Autism spectrum
CLN8p23.3Neuronal ceroid lipofuscinosis disease type 08Ataxia spectrum
CA8q12.1Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03Ataxia spectrum
CHD7q12.2CHARGE syndromeCleft lip / cleft palate
TTPAq12.3Ataxia with vitamin E deficiencyAtaxia spectrum
CPA6q13.2familial temporal lobe epilepsy 5Epilepsy and seizures
EYA1q13.3Lens clouding / cornea cloudingCataracts
NCOA2q13.3Thyroid disordersHypothyroidism
NBNq21Nijmegen breakage syndromeMicrocephaly
CNGB3q21.3AchromatopsiaPhotophobia - sensitivity to light
IDDFSDAq21.3INTELLECTUAL DEVELOPMENTAL DISORDER 4Autism spectrum
DPYSq22Dihydropyrimidinase deficiencyAutism spectrum
RUNX1T1q22Acute lymphoblastic leukemiaLeukemia
GDF6q22.1Microphthalmia isolated with coloboma 3 (MCOPCB3)Microphthalmia
NMLFSq22.1NABLUS MASK-LIKE FACIAL SYNDROMEAutism spectrum
PDP1q22.1Pyruvate dehydrogenase deficiencyAtaxia spectrum
SDC2q22.1SYNDECAN 2Autism spectrum
VPS13Bq22.2Cohen syndromeMicrocephaly
POPCHASq22.3POPOV-CHANG SYNDROMEAutism spectrum
RRM2Bq22.3Microcephaly - otherMicrocephaly
SRXY9q23.146 XY SEX REVERSAL 9Autism spectrum
TRHRq23.1Congenital hypothyroidismHypothyroidism
RAD21q24Cornelia de Lange SyndromeAutism spectrum
TGq24Graves DiseaseBradycardia (<60 beats/minute)
RAD21q24.11Microcephaly - otherMicrocephaly
SLC30A8q24.11Type 2 DiabetesDiabetes
RFN139q24.13Thyroid disordersHypothyroidism
TRIB1q24.13Non-alcoholic fatty liver diseaseDiabetes
WASHC5q24.13Spastic paraplegia type 8Copper metabolism defects
KCNQ3q24.22Benign familial neonatal seizuresEpilepsy and seizures
TGq24.22Congenital hypothyroidismHypothyroidism
TGq24.22Graves disease - overactive thyroidHyperthyroidism
ZFATq24.22Thyroid disordersHypothyroidism
FOXH1q24.3heterotaxy syndromeHeterotaxy
FOXH1q24.3Microcephaly - otherMicrocephaly
MRT13q24.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 13Autism spectrum
PLECq24.3EB-PA Epidermolysis bullosa with pyloric atresiaAlopecia
PUF60q24.3POLY-U-BINDING SPLICING FACTOR 60-KDAutism spectrum
RECQL4q24.3Rothmund-Thomson syndromeCataracts
VRJSq24.3VERHEIJ SYNDROMEAutism spectrum


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