Gene: [08^/RP1] retinitis pigmentosa 1 (autosomal dominant);
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HET |
About 20 genetic variants of nonsyndromic retinitis pigmentosa are classified into autosomal dominant, autosomal recessive, and X-linked recessive forms: RP1 - 1, autosomal dominant; RP2 - 2, X-linked recessive (GEM:0Xp113/RP2); RP3 - 3, X-linked recessive (GEM:0Xp211/RP3); RP4 - 4, autosomal dominant, rhodopsin-related (GEM:03q2/RHO); RP5 - 5, autosomal dominant (previously mapped to Chr 3 (MIM:180102), now symbol RP5 is retired, because of RP5 is the same as RP4); RP6 - 6, X-linked recessive (GEM:0Xp21/RP6); RP7 - 7, autosomal dominant (GEM:06p/RDS); RP8 - 8, autosomal dominant (GEM:00.0/RP8); RP9 - 9, autosomal dominant (GEM:07p1/RP9); RP10 - 10, autosomal dominant (GEM:07q3/RP10); RP11 - 11, autosomal dominant (GEM:19q134/RP11); RP12 - 12, autosomal recessive (GEM:01q3/RP12); RP13 - 13, autosomal dominant (GEM:17p13/RP13); RP14 - 14, autosomal recessive (GEM:06p213/TULP1); RP15 - 15, X-linked recessive (GEM:0Xp221/RP15); RP16 - 16, X-linked recessive (GEM:0X^/RP16); RP17 - 17, autosomal dominant (GEM:17q2/RP17); RP18 - 18, autosomal dominant (GEM:01^/RP18); RP19 - 19, autosomal recessive (GEM:01p13/ABCR); RP20 - 20, autosomal recessive (GEM:01p31/RPE65); RP22 - 22, autosomal recessive (GEM:16p12/RP22); RP24 - 24, X-linked (GEM:0Xq2/RP24); RP??? - autosomal dominant (GEM:04p163/PDE6B)." |
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REF |
LIN,LOC,HET "Bashir R &: Genomics, 14, 191-193, 1992 LIN,LOC "Blanton SH &: Genomics, 11, 857-869, 1991 LIN,LOC,HET "Chand A &: Austral NZ J Med, 18, 163-169, 1990 LIN,LOC,HET "Fei Y &: CCG, 46, (HGM9), 614, 1987 LIN,LOC,HET "Greenberg J &: Clin Genet, 41, 322-325, 1992 LIN,LOC,HET "Inglehearn CF &: J Med Genet, 27, 14-16, 1990 |
|
KEY |
eye |
|
CLA |
unknown, basic |
|
LOC |
08 p11-q21 |
|
MIM |
MIM: 180100 |
