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| Intellectual disability v3.1624 | GNB2 | Arina Puzriakova Phenotypes for gene: GNB2 were changed from Intellectual disability to Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | GNB2 | Ivone Leong Tag Q3_21_rating was removed from gene: GNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | GNB2 | Sarah Leigh commented on gene: GNB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | GNB2 |
Ivone Leong Source Expert Review Green was added to GNB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1163 | GNB2 | Arina Puzriakova Classified gene: GNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1163 | GNB2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1163 | GNB2 | Arina Puzriakova Gene: gnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1162 | GNB2 |
Arina Puzriakova gene: GNB2 was added gene: GNB2 was added to Intellectual disability. Sources: Literature Q3_21_rating tags were added to gene: GNB2. Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 31698099; 33971351; 34183358 Phenotypes for gene: GNB2 were set to Intellectual disability Review for gene: GNB2 was set to GREEN Added comment: GNB2 is not yet associated with any phenotype in OMIM, but has a 'confirmed' disease confidence rating for 'GNB2-related developmental disorder (monoallelic)' in G2P. At least 14 unrelated individuals with de novo monoallelic variants, including 5 recurrent variants in 13 individuals (PMIDs: 31698099; 33971351; 34183358). All patients (except one fetus owing to termination of pregnancy) have DD/ID of variable severity (mild to severe) which appeared to correlate with the variant each individual harboured. Other variable features include non-specific facial dysmorphism, hypotonia, and autistic behaviour. Sources: Literature |
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