Activity
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12 actions
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| Intellectual disability v8.128 | LINC01578 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: LINC01578. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.119 | LINC01578 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotype in OMIM (MIM #621012), but not yet in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.119 | LINC01578 | Achchuthan Shanmugasundram Phenotypes for gene: LINC01578 were changed from Neurodevelopmental disorder, MONDO:0700092, CHASERR-related to Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.118 | LINC01578 | Achchuthan Shanmugasundram Tag locus-type-rna-long-non-coding tag was added to gene: LINC01578. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | LINC01578 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: LINC01578. Tag Q3_24_NHS_review was removed from gene: LINC01578. |
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| Intellectual disability v8.97 | LINC01578 | Sarah Leigh commented on gene: LINC01578: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | LINC01578 |
Sarah Leigh Source NHS GMS was added to LINC01578. Source Expert Review Green was added to LINC01578. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.20 | LINC01578 |
Sarah Leigh Tag new-gene-name tag was added to gene: LINC01578. Tag Q3_24_promote_green tag was added to gene: LINC01578. Tag Q3_24_NHS_review tag was added to gene: LINC01578. |
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| Intellectual disability v8.20 | LINC01578 | Sarah Leigh reviewed gene: LINC01578: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.20 | LINC01578 | Sarah Leigh Classified gene: LINC01578 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.20 | LINC01578 | Sarah Leigh Gene: linc01578 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.16 | LINC01578 |
Zornitza Stark gene: LINC01578 was added gene: LINC01578 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: LINC01578 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LINC01578 were set to 39442041 Phenotypes for gene: LINC01578 were set to Neurodevelopmental disorder, MONDO:0700092, CHASERR-related Review for gene: LINC01578 was set to GREEN Added comment: CHASERR (aka LINC01578) encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Three unrelated children reported with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis, indicating bidirectional dosage sensitivity in human disease. Sources: Literature |
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