Activity
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18 actions
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| Intellectual disability v8.97 | IREB2 |
Sarah Leigh Tag watchlist was removed from gene: IREB2. Tag Q3_24_promote_green was removed from gene: IREB2. |
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| Intellectual disability v8.97 | IREB2 | Sarah Leigh reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | IREB2 |
Sarah Leigh Source NHS GMS was added to IREB2. Source Expert Review Green was added to IREB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Classified gene: IREB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Gene: ireb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.70 | IREB2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IREB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.70 | IREB2 | Achchuthan Shanmugasundram Phenotypes for gene: IREB2 were changed from Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.69 | IREB2 | Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 11175792; 30915432; 31243445; 35602653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.69 | IREB2 | Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.68 | IREB2 |
Achchuthan Shanmugasundram changed review comment from: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia. This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the ID panel).; to: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia. This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the DD panel). |
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| Intellectual disability v6.68 | IREB2 | Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35602653; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.224 | IREB2 | Arina Puzriakova Tag watchlist tag was added to gene: IREB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.224 | IREB2 | Arina Puzriakova Classified gene: IREB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.224 | IREB2 | Arina Puzriakova Added comment: Comment on list classification: Phenotype is appropriate for this panel, but additional cases necessary to support causation. Therefore rated Amber, awaiting further publications/clinical evidence (added to watchlist). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.224 | IREB2 | Arina Puzriakova Gene: ireb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.223 | IREB2 | Arina Puzriakova reviewed gene: IREB2: Rating: ; Mode of pathogenicity: None; Publications: 30915432, 31243445; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.0 | IREB2 |
Zornitza Stark gene: IREB2 was added gene: IREB2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Review for gene: IREB2 was set to GREEN gene: IREB2 was marked as current diagnostic Added comment: Two affected individuals from unrelated families with functional evidence including highly specific, concordant phenotype in mice. Sources: Expert list |
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