Gene |
Location |
Syndrome |
Category |
HBII-85 | p11-13 | Prader-Willi | Autism spectrum | |
AUTS4 | q11 | AUTISM | Autism spectrum | |
AS | q11.2 | ANGELMAN SYNDROME | Autism spectrum | |
MAGEL2 | q11.2 | Prader-Willi | Autism spectrum | |
SHFYNG | q11.2 | SCHAAF-YANG SYNDROME | Autism spectrum | |
UBE3A | q11.2 | Microcephaly - other | Microcephaly | |
UBE3A | q11-q13 | Angelman`s Syndrome | Autism spectrum | |
ATP10A | q12 | ATPase CLASS V TYPE 10A | Autism spectrum | |
GABRA5 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5 | Autism spectrum | |
GABRB3 | q12 | Epilepsy childhood absence 5 (ECA5) | Autism spectrum | |
GABRG3 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3 | Autism spectrum | |
OCA2 | q12 | Oculocutaneous albinism type 2 | Photophobia - sensitivity to light | |
OCA2 | q12-13.1 | Angelman`s Syndrome | Autism spectrum | |
HERC2 | q13 | Prader-Willi | Autism spectrum | |
SLC12A6 | q13 | Andermann syndrome | Cerebral palsy | |
MRT38 | q13.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 38 | Autism spectrum | |
NSMCE3 | q13.1 | NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG | Autism spectrum | |
OCA2 | q13.1 | Microcephaly - other | Microcephaly | |
CHRNA7 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
OTUD7A | q13.3 | OTU DOMAIN-CONTAINING PROTEIN 7A | Autism spectrum | |
RYR3 | q13.3 | Autism 18 (AUTS18) | Autism spectrum | |
up to 6 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
CASC5 | q14 | Microcephaly - other | Microcephaly | |
CPCMR | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
MEIS2 | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
RASGRP1 | q14 | Rheumatoid arthritis | Arthritis | |
KNL1 | q15.1 | Microcephaly - other | Microcephaly | |
CDAN1 | q15.2 | Type 1 Diabetes | Diabetes | |
TTBK2 | q15.2 | Spinocerebellar ataxia type 11 | Ataxia spectrum | |
TUBGCP4 | q15.3 | Microcephaly - other | Microcephaly | |
BLOC1S6 | q21.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
CCDS3 | q21.1 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | Autism spectrum | |
CEP152 | q21.1 | Autosomal recessive primary microcephaly | Microcephaly | |
DUOX2 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
DUOXA2 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
FBN1 | q21.1 | Marfan syndroe | Cataracts | |
GATM | q21.1 | Arginine glycine amidinotransferase deficiency | Autism spectrum | |
SLC24A5 | q21.1 | Oculocutaneous albinism type 6 | Photophobia - sensitivity to light | |
SPG11 | q21.1 | ALS | ALS - amyotrophic lateral sclerosis | |
AP4E1 | q21.2 | Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorder | Cerebral palsy | |
HDC | q21.2 | HISTIDINE DECARBOXYLASE | Autism spectrum | |
LEO1 | q21.2 | LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF | Autism spectrum | |
MYO5A | q21.2 | Griscelli syndrome | Autism spectrum | |
TRPM7 | q21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
CRS3 | q21.3 | CRANIOSYNOSTOSIS 3 | Autism spectrum | |
DNAAF4 | q21.3 | Dyslexia type 1 | Dyslexia | |
LIPC | q21.3 | Hepatic lipase deficiency | Hyperlipidemia | |
OCA2 | q21.3 | Prader-Willi | Autism spectrum | |
RPS17 | q21.3 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
TCF12 | q21.3 | TRANSCRIPTION FACTOR 12 | Autism spectrum | |
IDDECA | q22.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 2 | Autism spectrum | |
RORA | q22.2 | RAR-RELATED ORPHAN RECEPTOR A | Autism spectrum | |
VPS13C | q22.2 | Parkinson disease autosomal recessive | Parkinsonism |
MAP2K1 | q22.31 | Cardiofaciocutaneous syndrome | Autism spectrum | |
MAP2K1 | q22.31 | Langerhans cell histiocytosis | Diabetes | |
MAP2K1 | q22.31 | Noonan syndrome | Autism spectrum | |
TRIP4 | q22.31 | Thyroid disorders | Hypothyroidism | |
SMAD3 | q22.33 | Loeys-Dietz syndrome | Asthma | |
CLN6 | q23 | CLN6 disease | Ataxia spectrum | |
HEXA | q23 | Tay-Sachs disease | Ataxia spectrum | |
MAP2K5 | q23 | Restless legs syndrome | Sleep disorders | |
SKOR1 | q23 | Restless legs syndrome | Sleep disorders | |
TLE3 | q23 | Rheumatoid arthritis | Arthritis | |
HCN4 | q24.1 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
PML | q24.1 | Acute lymphoblastic leukemia | Leukemia | |
STRA6 | q24.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
SIN3A | q24.2 | Witteveen-kolk syndrome | Autism spectrum | |
WITKOS | q24.2 | Witteveen-kolk syndrome | Autism spectrum | |
FAH | q25.1 | Tyrosinemia type 01 | Ataxia spectrum | |
MIR184 | q25.1 | Familial keratoconus with cataract (EDICT) | Cataracts | |
RPS17 | q25.2 | Microcephaly - other | Microcephaly | |
NTRK3 | q25.3 | Acute myeloid leukemia | Leukemia | |
ZNF592 | q25.3 | Autosomal recessive spinocerebellar ataxia | Ataxia spectrum | |
CHD2 | q26.1 | Epileptic encephalopathy early infantile 24 (EIEE24) | Autism spectrum | |
EEOC | q26.1 | EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET | Autism spectrum | |
FANCI | q26.1 | Microcephaly - other | Microcephaly | |
IDH2 | q26.1 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
PLIN1 | q26.1 | Familial partial lipodystrophy | Diabetes | |
POLG | q26.1 | Ataxia neuropathy spectrum | Ataxia spectrum | |
POLG | q26.1 | Myoclonic epilepsy myopathy sensory ataxia | Epilepsy and seizures | |
VPS33B | q26.1 | Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) | Arthrogryposis spectrum | |
ALDH1A3 | q26.3 | ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3 | Autism spectrum | |
CERS3 | q26.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
MCOP8 | q26.3 | MICROPHTHALMIA ISOLATED 8 | Autism spectrum | |