Gene: [02^/ACHM2] achromatopsia (rod monochromacy) 2; rod monochromacy (RMCH; total colorblindness); [RMCH ]
|
COM |
Based on affected patient with maternal disomy associated with Robertsonian translocation (14;14) Pentao-1992 assigned the RMCH gene to Chr 14. Arbour-1997 did not find a linkage with Chr 14 markers and demonstrated that the disease gene lies within a 14cM interval which spans the Chr 2 centromere." |
|
PAT |
Achromatopsia is an autosomal recessive disease of the retina, characterised clinically by an inability to distinguish colors, imaired visual acuity, nistagmus and photophobia. On X-linked partial colorblindness see GEM:0Xq28/CBM, GEM:0Xq28/CBD, GEM:0Xq28/CBP." |
|
REL |
GEM:00.0/ACHM3. |
|
REF |
LIN,LOC "Arbour NC &: Hum Mol Genet, 6, 689-694, 1997 ABR,LOC "Pentao L &: AJHG, 50, 690-699, 1992 |
|
KEY |
eye |
|
CLA |
unknown, basic |
|
LOC |
02 p11.2-q12 |
|
MIM |
MIM: 216900 |
|
SYN |
RMCH |
