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| Intellectual disability - microarray and sequencing v3.1594 | RYR2 | Sarah Leigh changed review comment from: PMID: 30170228 reports 34/421 RYR2-associated catecholaminergic polymorphic ventricular tachycardia (CPVT1) patients had intellectual disability. It was also possible to establish that de novo variants had arisen in 13/24 of these cases. RYR2 has not been made green on this panel at present, as ID is not a common feature of CPVT1 and it would appear that penetrance is incomplete.; to: PMID: 30170228 reports 34/421 RYR2-associated catecholaminergic polymorphic ventricular tachycardia (CPVT1) patients had intellectual disability. It was also possible to establish that de novo RYR2 variants had arisen in 13/24 of these cases. RYR2 has not been made green on this panel at present, as ID is not a common feature of CPVT1 and it would appear that penetrance is incomplete. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1594 | RYR2 | Sarah Leigh reviewed gene: RYR2: Rating: ; Mode of pathogenicity: None; Publications: 30170228; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1594 | RYR2 | Sarah Leigh Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1594 | RYR2 | Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1593 | RYR2 |
Sarah Leigh Tag Q3_22_rating was removed from gene: RYR2. Tag Q3_22_expert_review was removed from gene: RYR2. |
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| Intellectual disability - microarray and sequencing v3.1593 | RYR2 |
Sarah Leigh Tag Q3_22_rating tag was added to gene: RYR2. Tag Q3_22_expert_review tag was added to gene: RYR2. |
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| Intellectual disability - microarray and sequencing v3.1593 | RYR2 |
Dmitrijs Rots gene: RYR2 was added gene: RYR2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to 30170228 Penetrance for gene: RYR2 were set to Incomplete Review for gene: RYR2 was set to GREEN Added comment: In a large cohort of RYR2-related CPVT, 8% of individuals (34 of 421) were having ID of various severity. Funcional data suggest that highly damaging RYR2 variants underlie ID. Sources: Literature |
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