| Gene_ID |
Gene_Symbol |
Band |
Gene Name |
Inheritance |
Disorder |
OMIM |
Detail |
| AutG8195 |
MKKS |
20p12.2 |
McKusick-Kaufman syndrome |
AR |
Bardet-Biedl syndrome | Bardet-Biedl syndrome 6 (209900) |
|
- Description: Bardet-Biedl syndrome is a ciliopathy, like Joubert 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): 12471214; 15637713;
|
| AutG158 |
ADSL |
22q13.1 |
adenylosuccinate lyase |
AR |
Adenylosuccinate lyase deficiency | Adenylosuccinase deficiency (103050) |
|
- Description: Adenylosuccinate lyase deficiency; ~50% present 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): 6150139; 16839792; 11392513; 12833398; 21625931;
|
| AutG55624 |
POMGNT1 |
1p34.1 |
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase |
AR |
Muscle-eye-brain disease (MEB) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 (253280) |
|
- Description: Muscle-eye-brain disease (congenital muscular dystrophy, structural eye abnormalities and lissencephaly).
- 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): 15938569; 17906881;
|
| AutG6121 |
RPE65 |
1p31.3 |
retinal pigment epithelium-specific protein 65kDa |
AR |
Leber congenital amaurosis | Leber congenital amaurosis 2 (204100) |
|
- Description: Leber congenital amaurosis.
- 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; 12960219;
|
| AutG501 |
ALDH7A1 |
5q23.2 |
aldehyde dehydrogenase 7 family, member A1 |
AR |
Pyridoxine-dependent epilepsy | Epilepsy, pyridoxine-dependent (266100) |
|
- Description: Pyridoxine-dependent epilepsy (antiquitin deficiency) is a rare disorder characterized by early onset seizures that are controlled by pyridoxine (vitamin B6) Among 64 published ALDH7A1 mutations, at least 3 have been reported with autism or 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): 19128417; 11108513; 20554659;
|
| AutG7915 |
ALDH5A1 |
6p22.3 |
aldehyde dehydrogenase 5 family, member A1 |
AR |
Succinic semialdehyde dehydrogenase deficiency | Succinic semialdehyde dehydrogenase deficiency (271980) |
|
- Description: Succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria); 12% (4/33) have 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): 18622364; 12743223;
|
| AutG54806 |
AHI1 |
6q23.3 |
Abelson helper integration site 1 |
AR |
Leber congenital amaurosis | Leber congenital amaurosis 2 (204100) |
|
- Description: Joubert syndrome 3. Joubert syndrome is a clinically and genetically heterogeneous group of ciliopathies characterized by cerebellar ataxia, ID and breathing abnormalities, sometimes including retinal dystrophy and renal disease. ASD is a relatively frequent finding in patients with Joubert syndrome, present in 13-36% of patients. Ten genes have been implicated in Joubert syndrome, but so far, only 4 have been reported to be mutated in subjects with 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): 10511335; 15633174; 2015333;
|
| AutG3198 |
HOXA1 |
7p15.2 |
homeobox A1 |
AR |
Bosley-Salih-Alorainy syndrome | Bosley-Salih-Alorainy syndrome (601536) |
|
- Description: HOXA1 syndrome, Bosley-Salih-Alorainy variant (horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, cardiovascular malformations, ID and ASD); 2/9 patients meet criteria for autism.
- 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): 17875913;
|
| AutG157680 |
VPS13B |
8q22.2 |
vacuolar protein sorting 13 homolog B (yeast) |
AR |
Cohen syndrome | Cohen syndrome (216550) |
|
- Description: Cohen syndrome (ID, microcephaly, facial dysmorphism, obesity, retinal dystrophy, and neutropenia); 49% (22/45) meet criteria for autism.
- 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): 15793684; 11665826; 12690562; 15165433; 21418059;
|
| AutG57502 |
NLGN4X |
Xp22.32-p22.31 |
neuroligin 4, X-linked |
XL |
X-linked Mental retardation | Mental retardation, X-linked (300495) |
|
- Description: Non-syndromic X-linked ID and/or ASD; both mutations and deletions 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): 17910064; 12669065; 18413370; 14963808; 18231125; 18252227;
|
| AutG4281 |
MID1 |
Xp22 |
midline 1 (Opitz/BBB syndrome) |
XL |
Opitz syndrome | Opitz G syndrome, type I (300000) |
|
- Description: Opitz syndrome (Opitz/BBB 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): 11030761; 18697196;
|
| AutG4810 |
NHS |
Xp22.2-p22.13 |
Nance-Horan syndrome (congenital cataracts and dental anomalies) |
XL |
Nance-Horan syndrome | Nance-Horan syndrome (302350) |
|
- Description: Nance-Horan syndrome (congenital cataracts and dental anomalies).
- 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): 9268101;
|
| AutG6792 |
CDKL5 |
Xp22.13 |
cyclin-dependent kinase-like 5 |
XL |
infantile spasms | Epileptic encephalopathy, early infantile, 2 (300672) |
|
- Description: Rett-like syndrome with infantile spasms and severe ID in female patients.
- 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): 16611748; 19241098; 15492925;
|
| AutG170302 |
ARX |
Xp21.3 |
aristaless related homeobox |
XL |
X-linked mental retardation | Mental retardation, X-linked 36/43/54 (300419) |
|
- Description: Large spectrum of ID phenotypes, including X-linked lissencephaly and abnormal genitalia, West syndrome, Partington syndrome, and non-syndromic ID.
- 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): 16523516; 15200506; 19085879; 12376946;
|
| AutG11141 |
IL1RAPL1 |
Xp21.3-p21.2 |
interleukin 1 receptor accessory protein-like 1 |
XL |
X-linked mental retardation | Mental retardation, X-linked, 21/34 (300143) |
|
- Description: Non-syndromic X-linked ID and/or 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): 18005360; 20531469; 18801879;
|
| AutG1756 |
DMD |
Xp21.2-p21.1 |
dystrophin |
XL |
Duchenne muscular dystrophy | Duchenne muscular dystrophy (310200) |
|
- Description: Muscular dystrophy, Duchenne and Becker types; in one study, 19% (16/85) met criteria for 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): 20358624; 18354150; 19818935; 6746506; 11725514; 16417872; 18056690; 12757359; 6746506;
|
| AutG4693 |
NDP |
Xp11.3 |
Norrie disease (pseudoglioma) |
XL |
Norrie disease | Norrie disease (310600) |
|
- Description: Norrie disease (occuloacousticocerebral dysplasia).
- 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): 18817988; 7627181;
|
| AutG10084 |
PQBP1 |
Xp11.23 |
polyglutamine binding protein 1 |
XL |
Renpenning syndrome | Renpenning syndrome (309500) |
|
- Description: Large spectrum of ID phenotypes, including Renpenning syndrome (microcephaly, short stature, small testes and dysmorphic features) and non-syndromic ID.
- 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): 16493439; 15782410;
|
| AutG24140 |
FTSJ1 |
Xp11.23 |
FtsJ homolog 1 (E. coli) |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked-9 (309549) |
|
- Description: Non-syndromic X-linked ID.
- 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): 17333282;
|
| AutG778 |
CACNA1F |
Xp11.23 |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
XL |
X-linked incomplete congenital stationary night blindness (CSNB2) | Night blindness, congenital stationary, X-linked, type 2A (300071) |
|
- Description: X-linked incomplete congenital stationary night blindness, severe form.
- 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): 15897456;
|
