Activity
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9 actions
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| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | TP73 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: TP73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | TP73 | Eleanor Williams reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.49 | TP73 |
Eleanor Williams Source NHS GMS was added to TP73. Source Expert Review Green was added to TP73. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.41 | TP73 |
Achchuthan Shanmugasundram changed review comment from: TP73 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature; to: The ClinGen Motile Ciliopathy expert panel has classified the association of TP73 gene to ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:0030346) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:006420. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | TP73 | Achchuthan Shanmugasundram Classified gene: TP73 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | TP73 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.14 | TP73 | Achchuthan Shanmugasundram Gene: tp73 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.13 | TP73 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: TP73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.13 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Review for gene: TP73 was set to GREEN Added comment: TP73 has the gene-disease validity rating of 'Strong' in ClinGen. PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available. This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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