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| DDG2P v5.44 | NPRL3 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888).; to: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NPRL3 | Achchuthan Shanmugasundram reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26786403, 26285051, 34965576, 35136953, 27173016, 34868250, 26505888; Phenotypes: NPRL3-related familial focal epilepsy with or without focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | NPRL3 |
Achchuthan Shanmugasundram gene: NPRL3 was added gene: NPRL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPRL3 were set to 35136953; 34965576; 34868250; 26285051; 26786403; 27173016; 26505888 Phenotypes for gene: NPRL3 were set to NPRL3-related familial focal epilepsy with or without focal cortical dysplasia |
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