| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v1.828 | IRF2BP1 | Zornitza Stark Marked gene: IRF2BP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.828 | IRF2BP1 | Zornitza Stark Gene: irf2bp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.828 | IRF2BP1 | Zornitza Stark Classified gene: IRF2BP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.828 | IRF2BP1 | Zornitza Stark Gene: irf2bp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.827 | IRF2BP1 |
Zornitza Stark changed review comment from: PMID 38091987 reports two unrelated individuals with de novo truncating IRF2BP1 variants presenting with neurodevelopmental disorder, severe immunodeficiency, microcephaly and developmental delay, while PMID 37501076 adds a third unrelated individual with a de novo nonsense IRF2BP1 variant causing neonatal‑onset microcephaly, epilepsy, hypotonia and global developmental delay. Sources: Literature; to: PMID 38091987 reports two unrelated individuals with de novo truncating IRF2BP1 variants presenting with neurodevelopmental disorder, severe immunodeficiency, microcephaly and developmental delay, while PMID 37501076 adds a third unrelated individual with a de novo nonsense IRF2BP1 variant causing neonatal‑onset microcephaly, epilepsy, hypotonia and global developmental delay. However, all three individuals were identified as part of large cohort studies and I also note LoF variants in gnomAD. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.827 | IRF2BP1 | Zornitza Stark edited their review of gene: IRF2BP1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.827 | Zornitza Stark Copied gene IRF2BP1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.827 | IRF2BP1 |
Zornitza Stark gene: IRF2BP1 was added gene: IRF2BP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature Mode of inheritance for gene: IRF2BP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BP1 were set to 38091987; 37501076 Phenotypes for gene: IRF2BP1 were set to Neurodevelopmental disorder, MONDO:0700092, IRF2BP1-related |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||