Table 3 Recessive variants in novel candidate ASD/NDD genes/regions
From: Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
A. SNVs | |||||||||||
Proband-ID | Sex | Gene Name | Position (hg19) | Position (hg38) | Inheritance | Variant type | HGVS.c | HGVS.p | pRec score | Consanguinity | Additional carriers from MSSNG/SSC |
BRK-83–01 | M | EIF2A | chr3:150,289,870 | chr3:150,572,083 | Homozygous | DMiss | c.937G > A | p.Gly313Arg | 0.96462 | Yes | 0 |
TRIM29 | chr11:119,983,129 | chr11:120,112,421 | Homozygous | DMiss | c.1760C > T | p.Ala587Val | 0.91016 | 0 | |||
BRK-23–01 | M | CDH23 | chr10:73,472,421 | chr10:71,712,664 | Homozygous | splice acceptor | c.3236-1G > A |  | 1 | No | 1 |
BRK-61–01 | F | KDM8 | chr16:27,231,905 | chr16:27,220,584 | Homozygous | DMiss | c.1219G > T | p.Asp407Tyr | 0.98296 | Yes | 0 |
NOC3L | chr10:96,093,965 | chr10:94,334,208 | Homozygous | DMiss | c.2372 T > C | p.Phe791Ser | 0.95724 | 0 | |||
BRK-71–01 | M | IFT140 | chr16:1,574,564 | chr16:1,524,563 | Homozygous | DMiss | c.3130C > T | p.Arg1044Cys | 0.90704 | Yes | 1 |
B. CNVs | Â | ||||||||||
Proband-ID | Sex | Gene/s | Position (hg19) | Position (hg38) | Inheritance | Variant type | Location | Size (kb) | pRec score | Consanguinity | Additional carriers from MSSNG/SSC |
BRK-16–01 | M | AFG3L1P | chr16:90,061,279–90061925 | chr16:89,994,871–89,995,517 | Homozygous | Deletion | Exonic | 0.646 | - | No | 1 |
BRK-72–01 | M | ELOVL2 | chr6:10,978,990–10981316 | chr6:10,978,757–10981083 | Homozygous | Deletion | Exonic | 2.326 | 0.15415 | No | 1 |
BRK-83–01 | M | FAM204A | chr10:120,044,837–120057685 | chr10:118,285,325–118,298,173 | Homozygous | Deletion | Exonic | 12.848 | 0.97978 | Yes | 3 |
BRK-12–01 | M | LINC00648/MIR548Y | chr14:48,229,812–48,277,400 | chr14:47,760,609–47808197 | Homozygous | Deletion | Exonic | 47.588 | - | No | 0 |