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| Intellectual disability v9.263 | PPFIA3 | Ida Ertmanska changed review comment from: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in 18/20 cases. Based on available evidence this gene should be promoted to Green for Intellectual disability.; to: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in majority of cases. Based on available evidence this gene should be promoted to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.263 | PPFIA3 |
Ida Ertmanska changed review comment from: PMID: 38181735 Paul et al., 2024 20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data). Sources: Literature; to: PMID: 38181735 Paul et al., 2024 20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data). Sources: Literature |
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| Intellectual disability v9.263 | PPFIA3 | Ida Ertmanska Classified gene: PPFIA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.263 | PPFIA3 | Ida Ertmanska Added comment: Comment on list classification: There are 17 unrelated individuals with heterozygous PPFIA3 variants and 1 patient with biallelic PPFIA3 variants, presenting with a syndromic neurodevelopmental disorder. Intellectual disability and/or developmental delay were the presenting features in 18/20 cases. Based on available evidence this gene should be promoted to Green for Intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.263 | PPFIA3 | Ida Ertmanska Gene: ppfia3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.262 | PPFIA3 |
Ida Ertmanska gene: PPFIA3 was added gene: PPFIA3 was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: PPFIA3. Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPFIA3 were set to 38181735 Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome, OMIM:621122 Review for gene: PPFIA3 was set to GREEN Added comment: PMID: 38181735 Paul et al., 2024 20 individuals from 18 families with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy. ID/GDD was a presenting feature in 18/20 individuals; 6/20 individuals had epilepsy (see suppl data). Sources: Literature |
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