CEP290

Deep intronic mutations

Definition Deep intronic variants are those genetic variants  falling more than 100bp away from the closest exon-intron boundary. Of course, like all other type of variants, deep intronic variants may be be pathogenic, but their pathogenicity is hard to be confirmed. They can be considered as the ‘dark side’ of the mutational spectrum of a

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Retinitis pigmentosa

Panel testing recommended at Breda Genetics for this condition: Retinitis pigmentosa, classic (ABCA4, AIPL1, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4,

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Joubert and Meckel-Gruber syndromes

Recommended panel testing at Breda Genetics for this condition: Joubert & Meckel-Gruber syndrome, classic (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) or Joubert and Meckel-Gruber syndrome, extended (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E,

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