Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | ADGRL1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ADGRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | ADGRL1 | Achchuthan Shanmugasundram commented on gene: ADGRL1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.40 | ADGRL1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ADGRL1. Source Expert Review Green was added to ADGRL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.46 | ADGRL1 | Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.46 | ADGRL1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.46 | ADGRL1 | Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.45 | ADGRL1 | Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to 30504930; 35907405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.45 | ADGRL1 | Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to 35907405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.44 | ADGRL1 |
Achchuthan Shanmugasundram edited their review of gene: ADGRL1: Added comment: PMID:35907405 reported the identification of monoallelic ADGRL1 variants in ten individuals with a neurodevelopmental disorder comprising developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy. This includes a case that was previously reported in PMID:30504930. Mild/ moderate intellectual disability was reported in five of these ten cases. This gene has been associated with relevant phenotype in OMIM (MIM #620065), but not yet in Gene2Phenotype.; Changed publications to: 30504930, 35907405 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.44 | ADGRL1 | Achchuthan Shanmugasundram Phenotypes for gene: ADGRL1 were changed from Developmental delay, behavioral abnormalities, and neuropsychiatric disorders to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.43 | ADGRL1 | Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to PubMed: 35907405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.42 | ADGRL1 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ADGRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.42 | ADGRL1 | Achchuthan Shanmugasundram reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35907405; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.557 | ADGRL1 |
Dmitrijs Rots gene: ADGRL1 was added gene: ADGRL1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRL1 were set to PubMed: 35907405 Phenotypes for gene: ADGRL1 were set to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders Review for gene: ADGRL1 was set to GREEN Added comment: More than 10 cases described in PubMed: 35907405 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||