Gene |
Location |
Syndrome |
Category |
SRCAP | p11.12 | Floating-Harbor syndrome | Autism spectrum | |
AUTS14A | p11.2 | AUTS14A - 16p11.2 deletion syndrome | Autism spectrum | |
AUTS14B | p11.2 | AUTS14B replication syndrome | Autism spectrum | |
BCKDK | p11.2 | Branched-chain ketoacid dehydrogenase kinase deficiency | Autism spectrum | |
BCKDKD | p11.2 | BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | Autism spectrum | |
FUS | p11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
GEFSP9 | p11.2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 | Autism spectrum | |
KCTD13 | p11.2 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13 | Autism spectrum | |
SETD1A | p11.2 | SET DOMAIN-CONTAINING PROTEIN 1A | Autism spectrum | |
STX1B | p11.2 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
STX1B | p11.2 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
IL4R | p11.2-12.1 | Asthma-related traits (ASRT) | Asthma | |
CRYM | p12.2 | Thyroid disorders | Hypothyroidism | |
PALB2 | P12.2 | Microcephaly - other | Microcephaly | |
COQ7 | P12.3 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
ADHD1 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
GRIN2A | p13 | EPILEPSY FOCAL WITH SPEECH DISORDER | Autism spectrum | |
NDE1 | p13.11 | Microcephaly - other | Microcephaly | |
CLEC16A | p13.13 | insulin-dependent diabetes mellitus | Diabetes | |
ABAT | p13.2 | GABA-transaminase deficiency | Epilepsy and seizures | |
TMEM114 | p13.2 | Congenital and juvenile cataracts | Cataracts | |
ALG1 | p13.3 | ALG1-congenital disorder of glycosylation | Ataxia spectrum | |
CACNA1H | p13.3 | childhood absence epilepsy 6 | Encephalitis | |
CAFDADD | p13.3 | CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | Autism spectrum | |
CREBBP | p13.3 | Rubinstein-Taybi syndrome | Autism spectrum | |
FFEVF3 | p13.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 | Autism spectrum | |
HBA1 | p13.3 | Alpha thalassemia | Microcephaly | |
HBA2 | p13.3 | Alpha thalassemia | Microcephaly | |
IFT140 | p13.3 | Mainzer-Saldino syndrome | Ataxia spectrum | |
IGFALS | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
MKHK1 | p13.3 | MENKE-HENNEKAM SYNDROME 1 | Autism spectrum | |
NEDBA | p13.3 | NEURODEVELOPMENTAL DISORDER 07 | Autism spectrum | |
NPRL3 | p13.3 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
RBFOX1 | p13.3 | RNA-BINDING PROTEIN FOX1 | Autism spectrum | |
RSTS1 | p13.3 | RUBINSTEIN-TAYBI SYNDROME 1 | Autism spectrum | |
SLX4 | p13.3 | Microcephaly - other | Microcephaly | |
STUB1 | p13.3 | Spinocerebellar ataxia autosomal recessive type 16 | Ataxia spectrum | |
TBC1D24 | p13.3 | Thyroid disorders | Hypothyroidism | |
TBC1D24 | p13.3 | Microcephaly - other | Microcephaly | |
TRAF7 | p13.3 | TNF RECEPTOR-ASSOCIATED FACTOR 7 | Autism spectrum | |
TSC2 | p13.3 | Tuberous sclerosis complex | Autism spectrum | |
VPS35 | q11.2 | Parkinson disease type 17 |
Parkinsonism | |
ORC6 | q12 | Meier-Gorlin syndrome | Microcephaly | |
CBLN1 | q12.1 | PRECEREBELLIN 1 | Autism spectrum | |
NOD2 | q12.1 | Crohn Disease | Irritable Bowel Disorders | |
NOD2 | q12.1 | Blau syndrome | Photophobia - sensitivity to light | |
TOX3 | q12.1 | Restless legs syndrome | Sleep disorders | |
FTO | q12.2 | Type 2 Diabetes | Diabetes | |
SLC6A2 | q12.2 | Orthostatic intolerance syndrome | Tachycardia (>100 beats/minute) | |
SEMDFA | q13 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE | Autism spectrum | |
BEAN1 | q21 | Spinocerebellar ataxia type 31 | Ataxia spectrum | |
CDH8 | q21 | CADHERIN 8 | Autism spectrum | |
COQ9 | q21 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
TK2 | q21 | Progressive external ophthalmoplegia | Ataxia spectrum | |
DHODH | q22 | Miller syndrome | Cleft lip / cleft palate | |
AARS | q22.1 | Epileptic encephalopathy early infantile 29 (EIEE29) | Autism spectrum | |
CTCF | q22.1 | CCCTC-BINDING FACTOR | Autism spectrum | |
MRD21 | q22.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 21 | Autism spectrum | |
HP | q22.2 | Crohn Disease | Irritable Bowel Disorders | |
TAT | q22.2 | Tyrosinemia type 02 | Ataxia spectrum | |
FA2H | q23 | Fatty acid hydroxylase-associated neurodegeneration (FAHN) | Cerebral palsy | |
WWOX | q23.1-2 | Spinocerebellar ataxia autosomal recessive type 12 | Ataxia spectrum | |
CTRCT21 | q23.2 | CATARACT 21 MULTIPLE TYPES | Autism spectrum | |
GAN | q23.2 | Giant axonal neuropathy | Ataxia spectrum | |
GCSH | q23.2 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
MAF | q23.2 | Cataract 21 multiple types (CTRCT21) | Cataracts | |
IRF8 | q24.1 | Rheumatoid arthritis | Arthritis | |
JPH3 | q24.2 | Huntington disease-like syndrome type 2 | Huntington`s disease spectrum | |
ACSF3 | q24.3 | Combined malonic and methylmalonic aciduria (CMAMMA) | Microcephaly | |
ANKRD11 | q24.3 | KBG Syndrome | Autism spectrum | |
CDT1 | q24.3 | Meier-Gorlin syndrome | Microcephaly | |
CHMP1A | q24.3 | Pontocerebellar hypoplasia | Microcephaly | |
FANCA | q24.3 | Microcephaly - other | Microcephaly | |
MCR1 | q24.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
SPG7 | q24.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |