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| Early-onset Parkinson disease v0.17 | TMEM230 |
Bryony Thompson gene: TMEM230 was added gene: TMEM230 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: TMEM230 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM230 were set to 30804554; 27270108; 28115417; 28017548; 30804555; 30804556; 31323517 Phenotypes for gene: TMEM230 were set to Parkinson disease 21, MIM#616361 Review for gene: TMEM230 was set to AMBER Added comment: A single family segregating a heterozygous missense (p.Arg141Leu) and supporting functional evidence. However, another group found a DNAJC13 variant in the same family also with supporting functional evidence. A stoploss was also identified in 9 Chinese Parkinson disease probands, however it was identified homozygous in 7 of these with no difference in the severity of phenotype. A similar stop loss was identified in a North American PD case. Another missense was identified in an apparently sporadic PD case (p.Tyr92Cys), but was also present in the unaffected mother (age 57 yrs). Another rare missense has been reported in a case with familial PD. The missense reported in a family from Southern Italy is too common in gnomAD v2.1 for a dominant disease (PMID: 31323517 - p.Ile125Met). Sources: Expert list |
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| Early-onset Parkinson disease v0.16 | DNAJC13 |
Bryony Thompson gene: DNAJC13 was added gene: DNAJC13 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: DNAJC13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC13 were set to 30788857; 24218364; 29309590; 31082451; 29887357; 27270108 Review for gene: DNAJC13 was set to AMBER Added comment: A single family segregating a heterozygous missense (p.Asn855Ser) and supporting functional evidence. However, another group found a TMEM230 variant in the same family also with supporting functional evidence. Two missense reported in two other studies (PMID: 30788857 - p.Arg1382His; PMID: 29887357 - p.Arg903Lys) are more common in gnomAD v2.1 than would be expected for a dominant disorder. Sources: Expert list |
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