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| Intellectual disability syndromic and non-syndromic v1.753 | NPRL2 | Lucy Spencer Classified gene: NPRL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.753 | NPRL2 | Lucy Spencer Gene: nprl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.752 | NPRL2 |
Lucy Spencer gene: NPRL2 was added gene: NPRL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 26505888; 34376795; 40804712; 30093711 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: Intellectual disability/developmental delay has been reported in some individuals with NPRL2-related epilepsy; PMID: 30093711 3 patients with NPRL2 variants and 2 have ID, 2 also have brain abnormalities. NPRL2 forms the GATOR1 complex with DEPDC5 and NPLR3, the paper describes the phenotype of all 3 as overlapping- ID better reported in the other genes PMID: 40804712 1 individual with mild ID and severe speech impairment. has a frameshift variant in NPRL2 PMID: 34376795 proband with seizures and dev delay/DEE, mother had ID and seizures. both had a canonical splice in NPRL2 PMID: 26505888 1 proband with ID and temporal lobe epilepsy. Had a maternally inherited missense Thr110Ser only 1 het i gnomad Borderline amber/green for this panel Sources: Literature |
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