Gene: [01q41/USH2A] Usher syndrome 2 gene; Usher syndrome 2 (retinitis/deafness; autosomal recessive, mild); [USH2 US2 ]

HET

 See GEM:14q32/USH1A.

HIS

 Previously one of the USH types (MIM:276900) was mapped to Chr 4, basing on the linkage with the GC marker (Daiger-1987; Pelias-1988); however, later the same authors, using more precise methods, ruled out this location (Smith-1988,1989a,b). Therefore, the USH1 marker was excluded from the list of mapped genes, and then is indicated as a locus of chromosome 14 (GEM:14q32/USH1A)."

REF

 LOC "Bessant DAR &: J Med Genet, 35, N9, 773-774, 1998
LIN,LOC "Daiger SP &: CCG, 46, 602-602, 1987
PAT,PHE,COM "Davenport &: Pediatrics, 62, 578-583, 1978
CLO,SEQ,MUT "Eudy JD &: Science, 280, N5370, 1753-1757, 1998
PAT,PHE,COM "Gorlin &: Arch Otolaryngol, 105, 353-354, 1979
LIN,LOC "Kimberling WJ &: AJHG, 56, 216-223, 1995
LIN,LOC "Kimberling WJ &: Genomics, 7, 245-249, 1990
LIN,LOC "Lewis RA &: Genomics, 7, 250-256, 1990
LIN,LOC "Pelias MZ &: CCG, 47, 111-112, 1988
LIN,LOC,HET "Pieke Dahl S &: J Med Genet, 33, N9, 753-757, 1996
LIN,LOC,HET "Pieke Dahl S &: J Med Genet, 30, N10, 843-848, 1993
LIN,LOC "Smith RJH &: CCG, 51, 1082-1082, 1989a
LIN,LOC "Smith RJH &: CCG, 50, 102-106, 1989b
LIN,LOC "Smith RJH &: AJHG, 43, A159-159, 1988

KEY

 eye, neu

CLA

 coding, basic

LOC

 01 q41

MIM

 MIM: 276901

SYN

 USH2 US2

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