Activity
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| Respiratory ciliopathies including non-CF bronchiectasis v4.42 | STK36 |
Achchuthan Shanmugasundram changed review comment from: STK36 has the gene-disease validity rating of 'Moderate' in ClinGen, based on evidence from a single reported human case and experiment evidence from both non-human models and patient cell line. Hence, the evidence is only sufficient for an amber rating.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of STK36 gene to ciliary dyskinesia, primary, 46 (MONDO:0030332) as 'Moderate'. More information can be found in https://search.clinicalgenome.org/CCID:008521. However, this 'moderate' rating in ClinGen was based on evidence from a single reported human case and experiment evidence from both non-human models and patient cell line. This evidence is only sufficient for an amber rating, as per rating criteria used by PanelApp. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.19 | STK36 | Achchuthan Shanmugasundram reviewed gene: STK36: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.138 | STK36 | Louise Daugherty Mode of inheritance for gene: STK36 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.137 | STK36 | Louise Daugherty edited their review of gene: STK36: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber. Only 1 case PMID:28543983; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.131 | STK36 | Anna de Burca Classified gene: STK36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.131 | STK36 | Anna de Burca Gene: stk36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.130 | STK36 | Anna de Burca reviewed gene: STK36: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28543983; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.6 | STK36 | Louise Daugherty Publications for gene: STK36 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.3 | STK36 |
Louise Daugherty Source Expert Review Green was added to STK36. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v0.2 | STK36 | Louise Daugherty reviewed gene: STK36: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v0.1 | STK36 |
Louise Daugherty gene: STK36 was added gene: STK36 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: STK36 was set to |
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