Activity
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17 actions
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| Intellectual disability v8.97 | GNAI2 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: GNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | GNAI2 | Sarah Leigh reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | GNAI2 |
Sarah Leigh Source NHS GMS was added to GNAI2. Source Expert Review Green was added to GNAI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.34 | GNAI2 | Arina Puzriakova Classified gene: GNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.34 | GNAI2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this to Green at the next GMS panel update. Multiple individuals reported with heterozygous variants supported by functional studies. In PMID:39298586 neurodevelopmental delay in early childhood was reported in 68% of cases, which progressed to ID as patients became older in 53%. Overall patients present with a highly variable phenotype that would be suited to the R27 Paediatic disorders super panel - inclusion on the ID panel would feed into R27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.34 | GNAI2 | Arina Puzriakova Gene: gnai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.33 | GNAI2 | Arina Puzriakova Mode of pathogenicity for gene: GNAI2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.32 | GNAI2 | Arina Puzriakova Mode of pathogenicity for gene: GNAI2 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.32 | GNAI2 | Arina Puzriakova Mode of pathogenicity for gene: GNAI2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.31 | GNAI2 | Arina Puzriakova Publications for gene: GNAI2 were set to 31036916; 27787898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.30 | GNAI2 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: GNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.30 | GNAI2 |
Arina Puzriakova edited their review of gene: GNAI2: Added comment: Ham et al. (2024) (PMID: 39298586) - 20 individuals from 18 unrelated families with heterozygous GOF missense variants in GNAI2 and highly heterogenous clinical presentations. Most commonly observed was disruption of the immune system, with almost 90% of cases exhibiting recurrent, unusual, and/or severe infections. Other features include birth defects, growth abnormalities, neurodevelopmental delay progressing to ID at later stages, brain structural abnormalities and various dysmorphic features. Authors dubbed the syndromic disorder with the acronym MAGIS - Midline malformations of the brain, Anterior hypopituitarism, Growth retardation, Immunodeficiency/immunodysregulation, Skeletal abnormalities.; Changed publications to: 31036916, 27787898, 39298586 |
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| Intellectual disability v7.61 | GNAI2 | Dmitrijs Rots reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 39298586; Phenotypes: Immunodefficiency with multisystemic presentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.181 | GNAI2 | Arina Puzriakova Classified gene: GNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.181 | GNAI2 | Arina Puzriakova Gene: gnai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.156 | GNAI2 | Arina Puzriakova reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31036916, 27787898; Phenotypes: Syndromic developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.31 | GNAI2 |
Zornitza Stark gene: GNAI2 was added gene: GNAI2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI2 were set to 31036916; 27787898 Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability Review for gene: GNAI2 was set to AMBER Added comment: Two individuals reported, some functional data. Sources: Literature |
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