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| DDG2P v5.44 | NPRL2 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL2-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: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016).; to: The DDG2P confidence category for the disease NPRL2-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: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NPRL2 | Achchuthan Shanmugasundram reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37259768, 31835056, 34965576, 27173016, 28199897, 34376795, 30093711, 26505888; Phenotypes: NPRL2-related familial focal epilepsy with or without focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | NPRL2 |
Achchuthan Shanmugasundram gene: NPRL2 was added gene: NPRL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPRL2 were set to 28199897; 34965576; 37259768; 34376795; 30093711; 31835056; 27173016; 26505888 Phenotypes for gene: NPRL2 were set to NPRL2-related familial focal epilepsy with or without focal cortical dysplasia |
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