Activity
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14 actions
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| DDG2P v6.183 | GNAI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNAI1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GNAI1 | Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities are moderate, monoallelic_autosomal and undetermined (PMIDs: 33473207, 34819662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01703.; Changed phenotypes to: MONDO:0859243, OMIM:619854.0, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | GNAI1 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: GNAI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.18 | GNAI1 | Achchuthan Shanmugasundram edited their review of gene: GNAI1: Changed phenotypes to: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | GNAI1 | Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category for the disease GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34819662;33473207).; Changed mode of pathogenicity: Other; Changed publications to: 34819662, 33473207; Changed phenotypes to: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | GNAI1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GNAI1 | Achchuthan Shanmugasundram reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33473207; Phenotypes: GNAI1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GNAI1 | Achchuthan Shanmugasundram Publications for gene: GNAI1 were updated from 28135719 to 33473207; 28135719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | GNAI1 | Sarah Leigh Tag gene-checked was removed from gene: GNAI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | GNAI1 | Arina Puzriakova Tag gene-checked tag was added to gene: GNAI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | GNAI1 | Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.7 | GNAI1 | Rebecca Foulger Publications for gene: GNAI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GNAI1 | Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GNAI1 |
Rebecca Foulger gene: GNAI1 was added gene: GNAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome |
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