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| Malformations of cortical development v3.11 | NPRL2 | Arina Puzriakova Tag Q4_21_rating was removed from gene: NPRL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | NPRL2 | Arina Puzriakova reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | NPRL2 |
Arina Puzriakova Source Expert Review Green was added to NPRL2. Source NHS GMS was added to NPRL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.112 | NPRL2 | Ivone Leong Penetrance for gene NPRL2 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.111 | NPRL2 | Ivone Leong Classified gene: NPRL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.111 | NPRL2 | 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. It should be noted that not all patients with variants in this gene has focal cortical dysplasia; however, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.111 | NPRL2 | Ivone Leong Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.110 | NPRL2 | Ivone Leong Tag Q4_21_rating tag was added to gene: NPRL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.110 | NPRL2 | Ivone Leong Added comment: Comment on publications: PMID: 30093711 describes another 2 cases with FCD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.110 | NPRL2 | Ivone Leong Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.109 | NPRL2 | Ivone Leong Phenotypes for gene: NPRL2 were changed from Epilepsy, familial focal, with variable foci 2, MIM# 617116 to Epilepsy, familial focal, with variable foci 2, OMIM:617116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | NPRL2 |
Zornitza Stark gene: NPRL2 was added gene: NPRL2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 27173016; 31625153 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, MIM# 617116 Review for gene: NPRL2 was set to AMBER Added comment: Focal cortical dysplasia reported in some patients PMID: 29281825 (2017) - LOF variant identified in a patient with left frontal focal cortical dysplasia PMID: 27173016 (2016) - cohort of focal epilepsy patients. LOF function variant in a family with focal epilepsy and focal cortical dysplasia. Segregated with two affected individuals but reduced penetrance and variable expressivity was observed. Summary: associated with focal cortical dysplasia in two families. Recent review (PMID: 31625153) also states, mutations in NPRL2 have been linked to focal epilepsy with a less clear association with Focal Cortical Dysplasia. Sources: Expert list |
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