Activity
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14 actions
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| Optic neuropathy v5.28 | BORCS8 | Ida Ertmanska Tag Q3_24_promote_green was removed from gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.28 | BORCS8 | Ida Ertmanska reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v5.27 | BORCS8 |
Ida Ertmanska Source Expert Review Green was added to BORCS8. Source NHS GMS was added to BORCS8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v4.35 | BORCS8 |
Arina Puzriakova Tag gene-checked was removed from gene: BORCS8. Tag Q3_24_promote_green tag was added to gene: BORCS8. |
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| Optic neuropathy v4.35 | BORCS8 | Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; hereditary optic neuropathy, MONDO:0020249 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.34 | BORCS8 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Classified gene: BORCS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Gene: borcs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.32 | BORCS8 | Achchuthan Shanmugasundram Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; hereditary optic neuropathy, MONDO:0020249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 | Achchuthan Shanmugasundram edited their review of gene: BORCS8: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, hereditary optic neuropathy, MONDO:0020249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 |
Achchuthan Shanmugasundram gene: BORCS8 was added gene: BORCS8 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: BORCS8 was set to GREEN Added comment: PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed. Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM. Sources: Literature |
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