Gene |
Location |
Syndrome |
Category |
trisomy | all | Patau syndrome | Cleft lip / cleft palate | |
ALOX5AP | q12 | Leukotriene C4 synthase deficiency | Asthma | |
GJA3 | q12.11 | Zonular pulverulent cataract type 3 (CZP3) | Cataracts | |
GJB2 | q12.11 | Keratitis-ichthyosis-deafness syndrome | Photophobia - sensitivity to light | |
GJB6 | q12.11 | Clouston syndrome | Alopecia | |
CENPJ | q12.12 | Autosomal recessive primary microcephaly | Microcephaly | |
MIPEP | q12.12 | Friedreich ataxia | Ataxia spectrum | |
SACS | q12.12 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | Ataxia spectrum | |
ATP8A2 | q12.13 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04 | Ataxia spectrum | |
PDX1 | q12.2 | Permanent neonatal diabetes mellitus | Diabetes | |
D3S196 | q12.2-q13 | Mobius Syndrome | Autism spectrum | |
MBS | q12.2-q13 | MOEBIUS SYNDROME | Autism spectrum | |
B3GLCT | q12.3 | Peters plus syndrome | Cleft lip / cleft palate | |
TRPA1 | q13 | Familial episodic pain syndrome | Tachycardia (>100 beats/minute) | |
BRCA2 | q13.1 | Microcephaly - other | Microcephaly | |
FREM2 | q13.3 | Fraser syndrome | Cleft lip / cleft palate | |
NBEA | q13.3 | Autism 18 (AUTS18) | Autism spectrum | |
LACC1 | q14.11 | Ulcerative colitis | Irritable Bowel Disorders | |
LACC1 | q14.11 | Crohn Disease | Irritable Bowel Disorders | |
SLC25A15 | q14.11 | Ornithine translocase deficiency | Ataxia spectrum | |
HTR2A | q14.2 | Seasonal affective disorder | Sleep disorders | |
ITM2B | q14.2 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
LPAR6 | q14.2 | Autosomal recessive hypotrichosis | Alopecia | |
AUTS3 | q14.2-q14. | AUTISM | Autism spectrum | |
ATP7B | q14.3 | Wilson Disease - copper | Copper metabolism defects | |
ATP7B | q14.3 | Wilson disease | Panic phobia anxiety | |
RNASEH2B | q14.3 | Microcephaly - other | Microcephaly | |
RNASEH2B | q14.3 | Aicardi-Goutieres Syndrome | Autism spectrum | |
SLI3 | q21 | SPECIFIC LANGUAGE IMPAIRMENT 3 | Autism spectrum | |
ATXN8OS | q21.33 | Parkinson disease susceptability | Parkinsonism |
ATXN8OS | q21.33 | Spinocerebellar ataxia type 08 | Ataxia spectrum | |
TBC1D4 | q22.2 | Type 2 Diabetes | Diabetes | |
CLN5 | q22.3 | Neuronal ceroid lipofuscinosis disease type 05 | Ataxia spectrum | |
HSCR2 | q22.3 | HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2 | Autism spectrum | |
SLITRK1 | q31.1 | Tourette syndrome | Panic phobia anxiety | |
ZIC2 | q32 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
ZIC2 | q32.3 | Microcephaly - other | Microcephaly | |
FGF14 | q33.1 | Spinocerebellar ataxia type 27 | Ataxia spectrum | |
LIG4 | q33.3 | Omenn syndrome | Alopecia | |
CARS2 | q34 | Combined oxidative phosphorylation deficiency 27 | Epilepsy and seizures | |
CHAMP1 | q34 | Mental retardation autosomal dominant 40 | Autism spectrum | |
COL4A1 | q34 | Familial porencephaly | Microcephaly | |
MRD40 | q34 | Mental retardation autosomal dominant 40 | Autism spectrum | |