%608031
Table of Contents
Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1-5,100,000
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Sapp et al. (2003) performed a genetic linkage screen in 16 U.S. pedigrees with familial ALS and no evidence for mutations in the SOD1 gene (147450). In 1 of the 16 families, they identified a novel ALS locus, designated ALS7, spanning a 6.25-cM (1-Mb) region on chromosome 20p. A multipoint lod score calculated for this family had a peak value of 3.46 at D20S103. In another family, Sapp et al. (2003) identified a novel ALS locus on chromosome 16 (ALS6; 608030).
Sapp, P. C., Hosler, B. A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., Gorenstein, J., Huang, M., Sailer, W., Scheffler, M., Valesky, M., Haines, J. L., Pericak-Vance, M., Siddique, T., Horvitz, H. R., Brown, R. H., Jr. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 73: 397-403, 2003. [PubMed: 12858291, images, related citations] [Full Text]
SNOMEDCT: 1204349002; ORPHA: 803; DO: 0060199;
Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1-5,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 20p13 | Amyotrophic lateral sclerosis 7 | 608031 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).
Sapp et al. (2003) performed a genetic linkage screen in 16 U.S. pedigrees with familial ALS and no evidence for mutations in the SOD1 gene (147450). In 1 of the 16 families, they identified a novel ALS locus, designated ALS7, spanning a 6.25-cM (1-Mb) region on chromosome 20p. A multipoint lod score calculated for this family had a peak value of 3.46 at D20S103. In another family, Sapp et al. (2003) identified a novel ALS locus on chromosome 16 (ALS6; 608030).
Sapp, P. C., Hosler, B. A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., Gorenstein, J., Huang, M., Sailer, W., Scheffler, M., Valesky, M., Haines, J. L., Pericak-Vance, M., Siddique, T., Horvitz, H. R., Brown, R. H., Jr. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 73: 397-403, 2003. [PubMed: 12858291] [Full Text: https://doi.org/10.1086/377158]
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