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| DDG2P v6.239 | LZTR1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LZTR1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LZTR1 | Achchuthan Shanmugasundram edited their review of gene: LZTR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 29469822, 29959388, 30368668, 31182298, 37936555, 38135892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02571. The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 30368668, 30664951, 30859559, 31533111, 31825158, 33407364, 35656879, 35840934, 36304179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02988.; Changed publications to: 38135892, 33407364, 30859559, 35840934, 29959388, 29469822, 35656879, 37936555, 31182298, 36304179, 30368668, 31825158, 25795793, 30664951, 31533111; Changed phenotypes to: MONDO:0014693, NOONAN SYNDROME 10, OMIM:616564, LZTR1-related Noonan syndrome (monoallelic), LZTR1-related Noonan syndrome (biallelic), Noonan syndrome, OMIM:616564.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LZTR1 | Achchuthan Shanmugasundram reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29959388, 31825158, 25795793, 30859559, 30664951, 30368668, 31533111; Phenotypes: NOONAN SYNDROME 10, OMIM:616564, Noonan syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LZTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LZTR1. Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.9 | LZTR1 | Rebecca Foulger reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.8 | LZTR1 |
Rebecca Foulger gene: LZTR1 was added gene: LZTR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 30368668; 29959388 Phenotypes for gene: LZTR1 were set to Noonan syndrome Mode of pathogenicity for gene: LZTR1 was set to Other - please provide details in the comments |
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