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... Table 1. Early-Onset and Late-Onset Parkinson Disease: Monogenic Causes View in own window Gene 1 PD Designation 2 % of Adult PD Comments GeneReview / Reference / OMIM Entry Autosomal dominant LRRK2 PARK- LRRK2 1%-2% (13%-30% in ...

... may contain more recent information. — ED. Table A. Autosomal Dominant Tubulointerstitial ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... Arg3277Cys Hypomorphic allele (See Genotype-Phenotype Correlations .) ... of nomenclature. Chapter Notes Author ...

... may contain more recent information. — ED. Table A. Autosomal Dominant ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... ATP6V1B1 pathogenic variants affecting codon p.Arg394 cause autosomal dominant disease and act in a dominant-negative manner. Table 8. Pathogenic Variants Referenced in This GeneReview by Gene View in own window Gene 1 Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...

... 15 December 2022 (aa) Revision: added IFT140 -related autosomal dominant polycystic kidney disease to ... References Literature Cited Ackah RL, Yoeli D, Kueht M, ...

... occur at different residues from those responsible for autosomal dominant (AD) disease. As yet, variants ... Protein Change Reference Sequences c.664C>T p.His222Tyr 1 NM_ ...

... can be associated with either autosomal recessive or autosomal dominant disease. There is no ... Gene 1 Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...

... early lethality [ Tona et al 2020 ]. Mechanism of disease causation Autosomal recessive disorders ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...