| Gene_ID |
Gene_Symbol |
Band |
Gene Name |
Inheritance |
Disorder |
OMIM |
Detail |
| AutG4784 |
NFIX |
19p13.13 |
nuclear factor I/X (CCAAT-binding transcription factor) |
AD |
Sotos-like overgrowth syndrome | Sotos syndrome (117550) |
|
- Description: Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, ID, scoliosis, and unusual facial features.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20673863;
|
| AutG1760 |
DMPK |
19q13.32 |
dystrophia myotonica-protein kinase |
AD |
Myotonic dystrophy 1 (Steinert disease) | Myotonic dystrophy 1 (160900) |
|
- Description: Myotonic dystrophy 1 (Steinert disease). In a study of 57 children and adolescents with myotonic dystrophy 1, 49% had ASD (including 35% with autism). Several individuals with Asperger syndrome have been reported.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 8810716; 18228241; 9183272; 2789860;
|
| AutG6899 |
TBX1 |
22q11.21 |
T-box 1 |
AD |
22q11 deletion syndrome phenotype | Velocardiofacial syndrome (192430) |
|
- Description: 22q11 deletion syndrome phenotype (velocardiofacial/DiGeorge syndrome);22% (9/41) patients with velocardiofacial syndrome also have ASD.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 16684884; 17937445;
|
| AutG85358 |
SHANK3 |
22q13.33 |
SH3 and multiple ankyrin repeat domains 3 |
AD |
22q13 deletion syndrome | Chromosome 22q13.3 deletion syndrome (606232) |
|
- Description: 22q13 deletion syndrome (Phelan-McDermid syndrome) is caused by deletions of SHANK3; ASD or autistic features are frequent. SHANK3 mutations have also been reported in individuals with ASD.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20186804; 17173049; 18615476; 19736351; 15286229; 17999366; 10735630;
|
| AutG55777 |
MBD5 |
2q23.2 |
methyl-CpG binding domain protein 5 |
AD |
2q23.1 microdeletion syndrome | Mental retardation (156200) |
|
- Description: MBD5 is the only gene deleted in all subjects with the 2q23.1 microdeletion syndrome.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 18812405; 19809484;
|
| AutG6323 |
SCN1A |
2q24.3 |
sodium channel, voltage-gated, type I, alpha subunit |
AD |
Dravet syndrome | Dravet syndrome (607208) |
|
- Description: Severe myoclonic epilepsy of infancy (Dravet syndrome); ASD or autistic features have been reported repeatedly.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 16893627; -; 16122630; 16122630; 17030758; 19400878; 19764027; 21620773;
|
| AutG23314 |
SATB2 |
2q33.1 |
SATB homeobox 2 |
AD |
2q33.1 microdeletion syndrome | Cleft palate and mental retardation (119540) |
|
- Description: Haploinsufficiency of SATB2 causes some of the clinical features of the 2q33.1 microdeletion syndrome, including severe ID, cleft palate and tooth anomalies. SATB2 was disrupted in an individual with ASD carrying a balanced translocation.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 18252227; 16179223;
|
| AutG27086 |
FOXP1 |
3p13 |
forkhead box P1 |
AD |
sporadic nonsyndromic ID | Mental retardation with language impairment and autistic features (613670) |
|
- Description: Autosomal dominant non-syndromic ID and ASD; disrupted in two patients with ID and autism/ASD.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20950788;
|
| AutG25836 |
NIPBL |
5p13.2 |
Nipped-B homolog (Drosophila) |
AD |
Cornelia de Lange Syndrome | Cornelia de Lange syndrome 1 (122470) |
|
- Description: Cornelia de Lange syndrome (facial dysmorphism, upper limb malformations, growth and cognitive retardation) is caused by mutations in NIPBL (60%), SMC1A (5%), and SMC3 (1 patient). ASD has been reported in subjects with NIPBL and SMC1A mutations. 47-67% of individuals with de Lange syndrome have autism/ASD.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 17845236; 10490439; 16236812; 18564888; 19043149;
|
| AutG4208 |
MEF2C |
5q14.3 |
myocyte enhancer factor 2C |
AD |
5q14.3 microdeletion syndrome | Chromosome 5q14.3 deletion syndrome (613443) |
|
- Description: MEF2C is responsible for the 5q14.3 microdeletion syndrome; both mutations and deletions have been described in individuals with ASD or autistic behavior.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20729728; 20412115; 20333642; 20513142;
|
| AutG64324 |
NSD1 |
5q35.3 |
nuclear receptor binding SET domain protein 1 |
AD |
Sotos syndrome | Sotos syndrome (117550) |
|
- Description: Sotos syndrome (overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features and learning disabilities). The proportion of subjects with Sotos that have ASD is unknown, as only isolated cases have been reported.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 16419094; 15318025; 15070547; 10766977; 2347353; 11942428; 16980810; 2055890; 18001468; 2347353;
|
| AutG673 |
BRAF |
7q34 |
v-raf murine sarcoma viral oncogene homolog B1 |
AD |
Cardio-facio-cutaneous syndrome | Cardiofaciocutaneous syndrome (115150) |
|
- Description: Cardio-facio-cutaneous syndrome is caused by gain of function mutations in KRAS, BRAF, MEK1, or MEK2. CFC syndrome shows phenotypic overlap with Noonan syndrome and Costello syndrome. Among patients with CFC syndrome, 23% (5/22) have autism/autistic features.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 19953625; 17704260; 18456719; 18039235;
|
| AutG55636 |
CHD7 |
8q12.2 |
chromodomain helicase DNA binding protein 7 |
AD |
CHARGE syndrome | CHARGE syndrome (214800) |
|
- Description: CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies); 68% (17/25) have ASD/autistic traits.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 15637726; 16359593; 15688419; 19709852; 19664354; 15633180;
|
| AutG79813 |
EHMT1 |
9q34.3 |
euchromatic histone-lysine N-methyltransferase 1 |
AD |
9q subtelomeric deletion syndrome (Kleefstra syndrome) | Kleefstra syndrome (610253) |
|
- Description: EHMT1 is responsible for the core phenotype of the 9q subtelomeric deletion syndrome (Kleefstra syndrome). 23% (5/22) of subjects with Kleefstra syndrome due to deletions or mutations have ASD/autistic features.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 11840483; 12515261; 15054842; 15805155; 19264732; -;
|
| AutG9378 |
NRXN1 |
2p16.3 |
neurexin 1 |
AD?/AR (Pitt-Hopkins-like) |
Pitt-Hopkins-like mental retardation | Pitt-Hopkins-like syndrome 2 (600565) |
|
- Description: Disrupted in ASD, ID, and other neurodevelopmental and psychiatric disorders (autosomal dominant?); Pitt-Hopkins-like syndrome-2 (autosomal recessive).
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20468056; 19404257; 19736351; 18179900; 20531469; 17322880; 20162629; 19896112;
|
| AutG80184 |
CEP290 |
12q21.32 |
centrosomal protein 290kDa |
AR |
Joubert syndrome 5 | Joubert syndrome 5 (610188) |
|
- Description: Joubert syndrome 5; Leber congenital amaurosis (see AHI1 above, 6q23.3).
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 20683928; 17345604; 17409309;
|
| AutG5053 |
PAH |
12q23.2 |
phenylalanine hydroxylase |
AR |
Phenylketonuria | Phenylketonuria (261600) |
|
- Description: Phenylketonuria was identified as a cause of ASD in older studies, but it is no longer observed where neonatal testing exists.
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 12757360; 17607414; 11897827; 1391074; 2597924;
|
| AutG23322 |
RPGRIP1L |
16q12.2 |
RPGRIP1-like |
AR |
COACH syndrome | COACH syndrome (216360) |
|
- Description: Joubert syndrome 7, Meckel syndrome, COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 19574260;
|
| AutG6448 |
SGSH |
17q25.3 |
N-sulfoglucosamine sulfohydrolase |
AR |
Sanfilippo syndrome A | Mucopolysaccharidisis type IIIA (Sanfilippo A) (252900) |
|
- Description: Sanfilippo syndrome A (mucopolysaccharidosis III A).
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 8879465; 2244638; 11202024;
|
| AutG2593 |
GAMT |
19p13.3 |
guanidinoacetate N-methyltransferase |
AR |
Guanidine acetate methyltransferase (GAMT) deficiency | GAMT deficiency (612736) |
|
- Description: Guanidine acetate methyltransferase (GAMT) deficiency (brain creatine deficiency, synthesis defect).
- Evidence Level: Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
- Reference(s): 19892372; 20301745; 17336114;
|
