From: Gene panel sequencing in Brazilian patients with retinitis pigmentosa
Patient | Age | Gender | Gene/disease causing variation | Gene/pathogenic non disease causing variation | Results |
---|---|---|---|---|---|
1 | 43 | F | None | BBS9/c.666T > A p. Thr222Thr (heterozygous) BBS9/c.2214C > T p. Ile738Ile (heterozygous) PCDH15/c.608C > T p. Pro203Leu (heterozygous) SAGc.473C > A p. Thr158Lys (heterozygous) | Inconclusive |
2 | 47 | F | None | CNGA3/C.942C > A p. Thr314Thr/Lys (heterozygous) IQCB1/c.1393T > C p. Tyr465His (heterozygous) MFRP/c.771C > T p. Arg257Arg (heterozygous) MKS1/c.496C > T p. Arg166Cys (heterozygous) USH2A/c. 13355T > C p. Leu4452Ser (heterozygous) | Inconclusive |
3 | 73 | M | None | CRB1/c.3210 C > A p. Ser1070Arg (heterozygous) TRPM1/c. 1846-8C > G (heterozygous) TRPM1/c. 1453G > C p. Glu485Gln (heterozygous) | Inconclusive |
4 | 17 | F | None | GPR98/c.7569A > G p. Thr523Thr (heterozygous) GRM6/c.1706C > T p. Thr569Met (heterozygous) LCA5/c.609A > G p. Leu203Leu (heterozygous) PCDH15/c.2578C > T p. Arg860Trp (heterozygous) SAG/c.271C > T p. Arg91Trp (heterozygous) SDCCAG8/c.968G > A p. Arg323Lys (heterozygous) SLC24A1/c.2002C > T p. Arg668Cys (heterozygous) | Inconclusive |
7 | 59 | F | None | GUCY2D/c.2179G > A p. Gly727Ser (heterozygous) MKKS/c.760G > T p. Asp254Tyr (heterozygous) PDE6B/c. 1653C > T p. Tyr551Tyr (heterozygous) PDE6C/c.986A > C p. Glu329Ala (heterozygous) RBP3/c.2556C > T p. Ala852Ala (heterozygous) RIMS1/c.3959C > A p. Ser1320Tyr (heterozygous) | Inconclusive |
11 | 20 | F | None | CDH23 c.367G > A p. Gly123Arg (heterozygous) CDH23 c.7132G > A p. Gly2378Arg (heterozygous) CDHR1 c.155C > T p. Ser52Phe (heterozygous) CERKL c.589G > T p. Ala197Ser (heterozygous) FAM161A c.1133T > G p. Leu378Arg (heterozygous) RPGRIP1 c.256C > T p. Arg86Trp (heterozygous) USH2A c.5039A > G p. Lys1680Arg (heterozygous) | Inconclusive |
13 | 39 | M | None | N/A | Negative |