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| Malformations of cortical development v3.11 | NPRL3 | Arina Puzriakova Tag Q4_21_rating was removed from gene: NPRL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | NPRL3 | Arina Puzriakova reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | NPRL3 |
Arina Puzriakova Source Expert Review Green was added to NPRL3. Source NHS GMS was added to NPRL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.114 | NPRL3 | Ivone Leong Tag Q4_21_rating tag was added to gene: NPRL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.114 | NPRL3 | Ivone Leong Classified gene: NPRL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.114 | NPRL3 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given a Green rating at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.114 | NPRL3 | Ivone Leong Gene: nprl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.113 | NPRL3 | Ivone Leong Phenotypes for gene: NPRL3 were changed from Epilepsy, familial focal, with variable foci 3 (MIM#617118) to Epilepsy, familial focal, with variable foci 3, OMIM:617118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | NPRL3 |
Zornitza Stark gene: NPRL3 was added gene: NPRL3 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 26285051 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3 (MIM#617118) Review for gene: NPRL3 was set to GREEN Added comment: Three families reported where focal cortical dysplasia is a feature, but also reduced penetrance noted. Borderline Amber/Green. Sources: Expert list |
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