Gene Symbol: PLA2G6
OMIM: 603604Chromosome location: 22q13.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Infantile neuroaxonal dystrophy 1 |
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| Dna Change: | c.2071_2073delGTC |
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| Protein Change: | p.Val691del |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exon 15 |
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| Transcript: | NM_003560.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Libya | NA | NA | 1 family | 12 generations | Romani M et al., 2014Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, . Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.. Eur. J. Neurol.. 2014; 0(0): |
| Tunisia | NA | NA | 5 families (8 patients)/11 families | 12 generations | Romani M et al., 2014Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, . Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.. Eur. J. Neurol.. 2014; 0(0): |
References
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N, Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.Eur. J. Neurol.. 2014; 0(0):