| Gene_ID |
Gene_Symbol |
Band |
Gene Name |
Inheritance |
Disorder |
OMIM |
Detail |
| AutG775 |
CACNA1C |
12p13.33 |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
AD |
Timothy syndrome | Timothy syndrome (601005) |
|
- Description: Timothy syndrome (long QT syndrome with syndactyly). Among 5 children with Timothy syndrome, 3 had autism, one had ASD, and one had severe language delay.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 15454078; 20301577;
|
| AutG7337 |
UBE3A |
15q11.2 |
ubiquitin protein ligase E3A |
AD |
Angelman syndrome | Angelman syndrome (105830) |
|
- Description: Angelman syndrome is an imprinting disorder caused by maternal deletion of chromosome 15, paternal uniparental disomy, imprinting defect, or UBE3A mutation. Over one-half of the patients with Angelman syndrome have ASD.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 17415598; 16183798; 15165432; 21831244;
|
| AutG7249 |
TSC2 |
16p13.3 |
tuberous sclerosis 2 |
AD |
Tuberous sclerosis | Tuberous sclerosis-2 (191100) |
|
- Description: Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes (see TSC1 above, 9q34.13).
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 9394941; 8132114; 14985384; 17936687; 16901420;
|
| AutG7248 |
TSC1 |
9q34 |
tuberous sclerosis 1 |
AD |
Tuberous sclerosis | Tuberous sclerosis-1 (191100) |
|
- Description: Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. The frequency of tuberous sclerosis among patients with ASD in epidemiological samples is ~1%; the frequency of ASD in subjects with tuberous sclerosis varies between 16-60%.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 9394941; 8132114; 14985384; 17936687; 16901420;
|
| AutG1717 |
DHCR7 |
11q13.4 |
7-dehydrocholesterol reductase |
AR |
Smith-Lemli-Opitz syndrome | Smith-Lemli-Opitz syndrome (270400) |
|
- Description: Smith-Lemli-Opitz syndrome is an inborn error of metabolism affecting cholesterol biosynthesis. The rate of ASD in this syndrome is high: 53% (9/17) meet criteria for autism and 71% (10/14) have ASD, according to two studies.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 16761297; 16874769; 11223857;
|
| AutG26047 |
CNTNAP2 |
7q35-q36.1 |
contactin associated protein-like 2 |
AR (AD too?) |
Cortical dysplasia-focal epilepsy syndrome | Cortical dysplasia-focal epilepsy syndrome (610042) |
|
- Description: Cortical dysplasia-focal epilepsy syndrome and Pitt-Hopkins-like syndrome-1 are autosomal recessive disorders. Deletions or chromosomal rearrangements disrupting a single copy of CNTNAP2 have been reported in patients with ASD, ID, epilepsy, schizophrenia and bipolar disorder as well as in healthy subjects; however, the clinical significance of the disruption of only one allele is unknown.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 16571880; 20513142;
|
| AutG2332 |
FMR1 |
Xq27.3 |
fragile X mental retardation 1 |
XL |
fragile X syndrome | Fragile X syndrome (300624) |
|
- Description: Fragile X syndrome is found in ~2% of individuals with ASD. ~60% of males with the full mutation have ASD, ~20% in females. The premutation is also associated with an increased risk of ASD: 10-15% in males, 5% in females.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 17031449; 15070547; 20643379;
|
| AutG4204 |
MECP2 |
Xq28 |
methyl CpG binding protein 2 (Rett syndrome) |
XL |
Rett syndrome | Rett syndrome (312750) |
|
- Description: MECP2 mutations or deletions cause Rett syndrome in females, and congenital encephalopathy or non-syndromic ID in males; MECP2 duplication syndrome, mostly in males.
- Evidence Level: Level 4: The disorder is a generally acknowledged ASD related disorder.
- Reference(s): 16418599; 12770674; 17286265; 12959422; 16980810; 12707946;
|
| AutG5728 |
PTEN |
10q23.31 |
phosphatase and tensin homolog |
AD |
PTEN hamartoma-tumor syndrome | PTEN hamartoma-tumor syndrome (601728) |
|
- Description: PTEN hamartoma-tumor syndrome (including Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome); ID and ASD with macrocephaly. The frequency of PTEN mutations in children with ASD and macrocephaly is unknown; in one study, 15% (4/26) of children with PTEN mutations had 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): 15805158; 17427195; 12920084; 11496368; 12567405; 19321504; 20533527; 18759867; 20814261; 17526801; 19265751;
|
| AutG3481 |
IGF2 |
11p15.5 |
insulin-like growth factor 2 (somatomedin A) |
AD |
Beckwith-Wiedermann syndrome | Beckwith-Wiedermann syndrome (130650) |
|
- Description: Aberrant imprinting of IGF2 is associated with Beckwith-Wiedermann syndrome and Silver-Russell syndrome, characterized by growth abnormalities. Both disorders have been reported in ASD; 7% (6/87) of children with Beckwith-Wiedermann syndrome 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): 18314872;
|
| AutG3845 |
KRAS |
12p12.1 |
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog |
AD |
Cardio-facio-cutaneous syndrome | Cardiofaciocutaneous syndrome (115150) |
|
- Description: Cardio-facio-cutaneous 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): 17704260; 18456719;
|
| AutG5781 |
PTPN11 |
12q24.13 |
protein tyrosine phosphatase, non-receptor type 11 |
AD |
Noonan syndrome | Noonan syndrome 1 (163950) |
|
- Description: Noonan syndrome (craniofacial anomalies, short stature, heart defects). In a sample of 65 children with Noonan syndrome, 8% had a diagnosis of 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): 8173225; 6662846; 19077116; 8725750;
|
| AutG2290 |
FOXG1 |
14q12 |
forkhead box G1 |
AD |
Rett syndrome | Rett syndrome, congenital variant (613454) |
|
- Description: Deletions and mutations cause a congenital variant of Rett syndrome, duplications are associated with ID, severe speech delay, and epilepsy.
- 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): 19029900; 19564653;
|
| AutG5604 |
MAP2K1 |
15q22.31 |
mitogen-activated protein kinase kinase 1 |
AD |
Cardio-facio-cutaneous syndrome | Cardiofaciocutaneous syndrome (115150) |
|
- Description: Cardio-facio-cutaneous 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): 17704260;
|
| AutG1387 |
CREBBP |
16p13.3 |
CREB binding protein |
AD |
Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome (180849) |
|
- Description: Rubinstein-Taybi syndrome (ID, characteristic facial features, broad thumbs and great toes). Mutations in EP300 can also cause Rubinstein-Taybi syndrome (in 3%) but have not been reported in 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): 18792986; 19350377;
|
| AutG5048 |
PAFAH1B1 |
17p13.3 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
AD |
Lissencephaly 1 | Lissencephaly 1 (607432) |
|
- Description: Deletions or point mutations of PAFAH1B1 (LIS1) result in isolated lissencephaly; extended deletions including YWHAE cause Miller-Dieker syndrome; microduplications of PAFAH1B1 cause ID and subtle brain abnormalities. 30% (12/40) of patients with PAFAH1B1 point mutations or intragenic deletions have moderate to severe 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): 19136950; 20452996; 19667223;
|
| AutG7531 |
YWHAE |
17p13.3 |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide |
AD |
Miller-Dieker syndrome | Miller-Dieker lissencephaly syndrome (247200) |
|
- Description: Deletions including YWHAE are associated with Miller-Dieker syndrome, a contiguous gene syndrome; YWHAE is thought to be responsible for the more severe brain phenotype compared to deletions affecting only PAFAH1B1; 17p13.3 microduplications mapping to the Miller-Dieker critical region have also been identified. Only microduplications have been reported in 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): 19136950; 20452996;
|
| AutG10743 |
RAI1 |
17p11.2 |
retinoic acid induced 1 |
AD |
Smith-Magenis syndrome | Smith-Magenis syndrome (182290) |
|
- Description: Deletions or mutations of RAI1 cause Smith-Magenis syndrome; duplications result in Potocki-Lupski syndrome. ASDs are observed frequently in both syndromes.
- 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): 18301319; 17334992; 9557889; 17357070; 16980810; 2425619; 3728561; 20110824; -; 8055249;
|
| AutG84282 |
RNF135 |
17q11.2 |
ring finger protein 135 |
AD |
overgrowth ID | Overgrowth syndrome (611358) |
|
- Description: Mutations in RNF135, which is within the NF1 microdeletion region, cause overgrowth, ID, and dysmorphic features, demonstrating that haploinsufficiency of RNF135 contributes to the phenotype of NF1 microdeletion cases.
- 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): 17632510;
|
| AutG4763 |
NF1 |
17q11.2 |
neurofibromin 1 |
AD |
Neurofibromatosis type 1 | Neurofibromatosis, type 1 (162200) |
|
- Description: Neurofibromatosis type 1. The frequency of neurofibromatosis among patients with ASD is ~0.5%; the frequency of ASD in subjects with neurofibromatosis is 4% (3/74).
- 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): 9394941; 16980810; 17996402; 9932243;
|
