Positive NBS cases
| Case no. | Gene (MOI) | Variant | Zygosity | TRECsa | Phenotype |
|---|---|---|---|---|---|
| 1 | RAG1 (AR) | NM_000448.3: c.519del p.(Glu174SerfsTer27) | Homozygous | 0 | SCID |
| 2 | RAG1 (AR) | NM_000448.3: c.1331C>T p.(Ala444Val) | Homozygous | 0 | SCID |
| 3 | RAG1 (AR) | NM_000448.3: c.2095C>T p.(Arg699Trp) and c.2974A>G p.(Lys992Glu) | Compound heterozygous | 0 | SCID |
| 4 | IL2RG (XL) | NM_000206.3: c.298C>T p.(Gln100Ter) | Hemizygous | 0 | SCID |
| 5 | IL2RG (XL) | NM_000206.3: c.190G>A p.(Val64Met) | Hemizygous | 0 | SCID |
| 6 | FOXN1 (AD/AR) | NM_003593.3: c.831-2A>G p.(?) | Heterozygous | >2 and ≤10 | FOXN1 haploinsufficiency |
| 7 | FOXN1 (AD/AR) | NM_003593.3: c.143del p.(Cys48SerfsTer254) | Heterozygous | >2 and ≤10 | FOXN1 haploinsufficiency |
| 8 | FOXN1 (AD/AR) | NM_003593.3: c.1079T>C p.(Leu360Pro) | Heterozygous | ≤2 | FOXN1 haploinsufficiency |
| 9 | RMRP (AR) | NR_003051.3: n.147G>A and n.-32_1dup | Compound heterozygous | ≤2 | Cartilage hair hypoplasia |
| 10 | ATM (AR) | NM_000051.4:c.5979_5983del p.(Ser1993ArgfsTer23) and c.7875_7876delinsGC p.(Asp2625_Ala2626delinsGluPro) | Compound heterozygous | >2 and ≤10 | Ataxia telangiectasia |
| 11 | TBX1 (AD) | TBX1 deletion | Heterozygous | ≤2 | 22q11.2 deletion syndrome |
| 12 | TBX1 (AD) | TBX1 deletion | Heterozygous | ≤2 | 22q11.2 deletion syndrome |
| 13 | TBX1 (AD) | TBX1 deletion | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome |
| 14 | TBX1 (AD) | TBX1 deletion | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome |
| 15 | TBX1 (AD) | TBX1 deletion | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome |
| 52 | TBX1 (AD) | TBX1 deletion | Heterozygous | >2 and ≤10 | Unknown |
| Case no. | Gene (MOI) | Variant | Zygosity | TRECs | Phenotype |
|---|---|---|---|---|---|
| 1 | NM_000448.3: c.519del | Homozygous | 0 | SCID | |
| 2 | NM_000448.3: c.1331C>T | Homozygous | 0 | SCID | |
| 3 | NM_000448.3: c.2095C>T | Compound heterozygous | 0 | SCID | |
| 4 | NM_000206.3: c.298C>T | Hemizygous | 0 | SCID | |
| 5 | NM_000206.3: c.190G>A | Hemizygous | 0 | SCID | |
| 6 | NM_003593.3: c.831-2A>G | Heterozygous | >2 and ≤10 | ||
| 7 | NM_003593.3: c.143del | Heterozygous | >2 and ≤10 | ||
| 8 | NM_003593.3: c.1079T>C | Heterozygous | ≤2 | ||
| 9 | NR_003051.3: n.147G>A and n.-32_1dup | Compound heterozygous | ≤2 | Cartilage hair hypoplasia | |
| 10 | NM_000051.4:c.5979_5983del | Compound heterozygous | >2 and ≤10 | Ataxia telangiectasia | |
| 11 | Heterozygous | ≤2 | 22q11.2 deletion syndrome | ||
| 12 | Heterozygous | ≤2 | 22q11.2 deletion syndrome | ||
| 13 | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome | ||
| 14 | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome | ||
| 15 | Heterozygous | >2 and ≤10 | 22q11.2 deletion syndrome | ||
| 52 | Heterozygous | >2 and ≤10 | Unknown |
AD, autosomal dominant; MOI, mode of inheritance. Detected variants, TREC results, and clinical phenotype of positive cases identified by second-tier NGS in the analyzed NBS samples (n total = 162).
Copies/3.2 mm DBS punch (ImmunoIVD).
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