Activity
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13 actions
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| Intellectual disability v8.130 | LRRC7 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: LRRC7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | LRRC7 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: LRRC7. Tag Q3_24_NHS_review was removed from gene: LRRC7. |
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| Intellectual disability v8.97 | LRRC7 | Sarah Leigh reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | LRRC7 |
Sarah Leigh Source NHS GMS was added to LRRC7. Source Expert Review Green was added to LRRC7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v7.53 | LRRC7 | Achchuthan Shanmugasundram changed review comment from: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense variants.; to: PMID:39256359 identified 33 individuals with heterozygous missense or loss-of-function variants in LRRC7 and presenting with a neurodevelopmental disorder. This is a syndromic disorder characterised by intellectual disability, developmental delay, autism, attention deficit hyperactivity disorder (ADHD) and other behavioural features, including aggressiveness and impulsivity. There is also functional evidence available for the missense and truncating variants that support LoF mechanism of disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.53 | LRRC7 | Achchuthan Shanmugasundram Classified gene: LRRC7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.53 | LRRC7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Andrew Mumford, there is sufficient evidence available for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.53 | LRRC7 | Achchuthan Shanmugasundram Gene: lrrc7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.52 | LRRC7 | Achchuthan Shanmugasundram Phenotypes for gene: LRRC7 were changed from neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.52 | LRRC7 | Achchuthan Shanmugasundram Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.51 | LRRC7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LRRC7. Tag Q3_24_NHS_review tag was added to gene: LRRC7. |
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| Intellectual disability v7.51 | LRRC7 | Achchuthan Shanmugasundram reviewed gene: LRRC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39256359; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | LRRC7 |
Andrew Mumford gene: LRRC7 was added gene: LRRC7 was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359) Phenotypes for gene: LRRC7 were set to neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours Penetrance for gene: LRRC7 were set to Complete Review for gene: LRRC7 was set to GREEN Added comment: The association between monoallelic rare LoF variants in LRRC7 and disease class 'intellectual disability' in 100KGP participants was reported first in in 2023 (PMID 36928819). Detailed phenotype descriptions of the nine pedigrees in the 100KGP discovery collection plus a further sixteen pedigrees in a multicentre european case collection were subsequently published in 2024 (33 affected cases in total; PMID 39256359). This paper confirms functional impact of observed variants on synaptic targeting of the encoded protein Densin-180 in a manner consistent with human phenotype. Sources: Expert Review, Literature |
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