| Gene_ID |
Gene_Symbol |
Band |
Gene Name |
Inheritance |
Disorder |
OMIM |
Detail |
| AutG23096 |
IQSEC2 |
Xp11.22 |
IQ motif and Sec7 domain 2 |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked 1 (309530) |
|
- Description: Non-syndromic X-linked ID; mutations in 4 large pedigrees, 2 of which include individuals 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): 20473311;
|
| AutG2245 |
FGD1 |
Xp11.22 |
FYVE, RhoGEF and PH domain containing 1 |
XL |
Aarskog-Scott syndrome | Aarskog-Scott syndrome (305400) |
|
- Description: Aarskog-Scott syndrome (faciogenital dysplasia); non-syndromic X-linked ID. Four cases with a clinical diagnosis of Aarskog-Scott syndrome and ASD/autistic features have been described (not confirmed molecularly).
- 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): 10382140; 18577494;
|
| AutG4983 |
OPHN1 |
Xq12 |
oligophrenin 1 |
XL |
XLMR with cerebellar hypoplasia and distinctive facial appearance | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (300486) |
|
- Description: ID with cerebellar and vermis hypoplasia.
- 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): 20528889; 17333282;
|
| AutG9968 |
MED12 |
Xq13.1 |
mediator complex subunit 12 |
XL |
Lujan-Fryns syndrome | Lujan-Fryns syndrome (309520) |
|
- Description: Lujan-Fryns syndrome (X-linked ID with marfanoid habitus); 62.5% (20/32) of subjects with Lujan-Fryns syndrome have an autistic-like disorder.
- 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): 17036352; 17369503; 8725750; 16094260;
|
| AutG546 |
ATRX |
Xq21.1 |
alpha thalassemia/mental retardation syndrome X-linked |
XL |
ATRX syndrome | Alpha-thalassemia/mental retardation syndrome (301040) |
|
- Description: Large spectrum of phenotypes including ATRX syndrome (alpha thalassemia/mental retardation syndrome X-linked) and 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): 16722615; 20500465; -;
|
| AutG57526 |
PCDH19 |
Xq22.1 |
protocadherin 19 |
XL |
Sporadic infantile epileptic encephalopathy | Epileptic encephalopathy, early infantile, 9 (300088) |
|
- Description: X-linked female-limited epilepsy and cognitive impairment; ASD/autistic features are common: 22% (6/27) and 38% (5/13) in two studies.
- 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): 19214208; 18469813; 19752159; 20830798; 20713952; 18234694;
|
| AutG2182 |
ACSL4 |
Xq23 |
acyl-CoA synthetase long-chain family member 4 |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked nonspecific, 63 (300387) |
|
- 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): 12525535; 11889465;
|
| AutG1641 |
DCX |
Xq23 |
doublecortin |
XL |
Type 1 lissencephaly | Lissencephaly, X-linked (300067) |
|
- Description: Type 1 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): 18685874; 11711858;
|
| AutG186 |
AGTR2 |
Xq23 |
angiotensin II receptor, type 2 |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked 88 (300852) |
|
- 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): 12089445;
|
| AutG65109 |
UPF3B |
Xq24 |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked, syndromic 14 (300676) |
|
- Description: Non-syndromic X-linked ID with or without 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): 20820168; 19238151;
|
| AutG2892 |
GRIA3 |
Xq25 |
glutamate receptor, ionotrophic, AMPA 3 |
XL |
Non-syndromic X-linked ID | Mental retardation, X-linked 94 (300699) |
|
- Description: Non-syndromic X-linked ID; mutations as well as 3 cases of partial duplication of GRIA3 have been reported in patients with autism 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): 17568425; 19736351; 16840569; 17989220;
|
| AutG4952 |
OCRL |
Xq26.1 |
oculocerebrorenal syndrome of Lowe |
XL |
Lowe syndrome | Lowe syndrome (309000) |
|
- Description: Lowe syndrome or oculo-cerebro-renal syndrome (ID, bilateral cataract and renal Fanconi 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): 15781943; 8703225;
|
| AutG10479 |
SLC9A6 |
Xq26.3 |
solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
XL |
mental retardation, microcephaly, epilepsy, and ataxia | Mental retardation, X-linked syndromic, Christianson type (300243) |
|
- Description: Syndromic X-linked ID, Christianson type (ID, microcephaly, epilepsy, and ataxia).
- 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): 20395263;
|
| AutG9459 |
ARHGEF6 |
Xq26.3 |
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
XL |
X-linked forms of mental retardation | Mental retardation, X-linked nonspecific, type 46 (300436) |
|
- 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): 11017088; 9783701;
|
| AutG2334 |
AFF2 |
Xq28 |
AF4/FMR2 family, member 2 |
XL |
Fragile X mental retardation 2 (FRAXE) | Mental retardation, X-linked, FRAXE type (309548) |
|
- Description: Fragile X mental retardation 2 (FRAXE).
- 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): 9034011; 9032643; 9602188;
|
| AutG6535 |
SLC6A8 |
Xq28 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
XL |
creatine transporter deficiency | Creatine deficiency syndrome, X-linked (300352) |
|
- Description: Creatine deficiency syndrome; non-syndromic ID. Brain creatine deficiency can be caused by mutation in the creatine transporter gene SLC6A8, or by defects in the biosynthesis of creatine (GAMT and GATM genes); mutations in all three genes have been reported in ASD; ASD/autistic features appear to be frequent in creatine deficiency 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): 12210795; 17101918; 16601898; 19165619; 19319661;
|
| AutG3897 |
L1CAM |
Xq28 |
L1 cell adhesion molecule |
XL |
severe mental retardation, spastic paraparesis, adducted thumbs, agenesis of corpus callosum and microcephaly | MASA syndrome (303350) |
|
- Description: Syndromic X-linked ID, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) 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): 16816908;
|
| AutG116442 |
RAB39B |
Xq28 |
RAB39B, member RAS oncogene family |
XL |
X-linked mental retardation | Mental retardation, X-linked-72 (300271) |
|
- Description: X-linked ID associated with autism, epilepsy, and macrocephaly in two large pedigrees.
- 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): 20159109;
|
| AutG8905 |
AP1S2 |
Xp22.2 |
adaptor-related protein complex 1, sigma 2 subunit |
XL |
X-linked mental retardation syndrome | Mental retardation, X-linked 59 (300630) |
|
- Description: X-linked ID and autism syndrome characterized by hypotonia, speech delay, aggressive behavior, and brain calcifications.
- Evidence Level: Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
- Reference(s): 18428203;
|
| AutG23133 |
PHF8 |
Xp11.22 |
PHD finger protein 8 |
XL |
Siderius-Hamel syndrome (ID with cleft lip or cleft palate) | Mental retardation syndrome, X-linked, Siderius type (300263) |
|
- Description: Siderius-Hamel syndrome (ID with cleft lip or cleft palate).
- Evidence Level: Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
- Reference(s): 18498374;
|
