Gene: [11q21/CLA1] cerebellar ataxia 1 (autosomal recessive); [CPD3 ]
|
COM |
[1] This marker is described in MIM:213200 as cerebelloparenchimal
disorder III.
[2] The GDB does not consider the locus CLA1 as being mapped, although the linkage with TYR allows to map it; see GEM:11q21/TYR." |
|
HET |
Cerebellar ataxia as a symptom is one of pathognomonis features of ataxia telangiectasia (Louis-Bar syndrome), which is determined by an independent locus in the same chromosome (GEM:11q2/ATM)." |
|
LIN |
Linkage of CLA1 with a generalized type of albinism (GEM:11q21/TYR) was shown. It is indicated in MIM:213200 that this linkage is questionable." |
|
HIS |
Since the gene TYR was mapped in 11q14-21, an anonymous linkage group LG5, which was previously mentioned in the catalogues and included two genes (CLA1 and TYR) is now assigned to chr 11." |
|
REL |
GEM:0X^/CLA2; GEM:00.0/CLA3. |
|
REF |
FOG,LIN "Bamezai R &: Clin Genet, 31, 178-181, 1987 HIS,PHE "Jervis GA: Acta Genet Med Gemellol, 3, 153-162, 1954 HIS,PHE "Jervis GA: J Nerv Ment Dis, 111, 398-407, 1950 HIS,PHE "Norman RM: Brain, 63, 365-379, 1940 FOG,LIN "Skre H, Berg: Clin Genet, 5, 196-204, 1974 FOG,LIN "Wichman &: Clin Genet, 27, 373-382, 1985 |
|
KEY |
neu |
|
CLA |
unknown, basic |
|
LOC |
11 q21? |
|
MIM |
MIM: 213200 |
|
SYN |
CPD3 |
