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Severe Paediatric Disorders v1.144 | EMC1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.144 | EMC1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.144 | EMC1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.144 | EMC1 | Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.143 | EMC1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.143 | EMC1 | Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.143 | EMC1 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.143 | EMC1 | Achchuthan Shanmugasundram Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.142 | EMC1 | Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.142 | EMC1 | Achchuthan Shanmugasundram Publications for gene: EMC1 were set to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | EMC1 | Louise Daugherty Mode of inheritance for gene EMC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | EMC1 | Louise Daugherty reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | EMC1 | Louise Daugherty Publications for gene EMC1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | EMC1 | Louise Daugherty Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | EMC1 | Louise Daugherty Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | EMC1 | Louise Daugherty Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | EMC1 | Louise Daugherty Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | EMC1 | Louise Daugherty Source Next Generation Children Project was added to EMC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | EMC1 |
Louise Daugherty Source Expert Review Green was added to EMC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | EMC1 |
Louise Daugherty gene: EMC1 was added gene: EMC1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: EMC1 was set to |