From: Genome annotation for clinical genomic diagnostics: strengths and weaknesses
Location | Gene | Variation | HGVS nomenclature | ACMG clinical significance | Associated disorder | Reference |
---|---|---|---|---|---|---|
5′ UTR | FMR1 | Expansion | NM_002024.5(FMR1):c.-128_-126(200) | Pathogenic | Fragile X syndrome | [186] |
CDS | GRIN2A | Nonsense | NM_000833.4(GRIN2A):c.2041C > T (p.Arg681Ter) | Pathogenic | Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy | [187] |
CDS | GABRB3 | Missense | NM_021912.4(GABRB3):c.745C > A (p.Gln249Lys) | Pathogenic | Early infantile epileptic encephalopathy (EIEE) | [188] |
CDS | WDR62 | Deletion/frameshift | NM_001083961.1(WDR62):c.3839_3855del17 (p.Gly1280Alafs) | Pathogenic | Malformations of cortical development | [189] |
3′ UTR | MECP2 | SNV | NM_004992.3(MECP2):c.*2956G > A | Uncertain significance | Rett syndrome | [190] |
Promoter | CRH | SNV | NC_000008.11:g.66178947G > T | Pathogenic | Familial autosomal dominant nocturnal frontal lobe epilepsy | [191] |
Splice site | ATP6AP2 | SNV | NM_005765.2(ATP6AP2):c.321C > T (p.Asp107=) | Pathogenic | X-linked mental retardation and epilepsy due to inefficient inclusion of exon 4 | [192] |
Poly(A) | ARSA | SNV | NM_000487.5(ARSA):c.*96A > G | Pathogenic | Metachromatic leukodystrophy | [193] |
NMD | SNRPB | SNV | NM_003091.3(SNRPB):c.-72C > A | Pathogenic | Cerebro-costo-mandibular syndrome | [194] |
lncRNA | ATXN8OS | Insertion | NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40) | Pathogenic | Spinocerebellar ataxia type 8 | [195] |