Activity
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11 actions
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| Pulmonary Fibrosis, Familial v1.16 | HCK | Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: HCK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.16 | HCK | Ida Ertmanska Phenotypes for gene: HCK were changed from Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease to Autoinflammation with pulmonary and cutaneous vasculitis, OMIM:620296; autoinflammation with pulmonary and cutaneous vasculitis, MONDO:0957204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.15 | HCK | Ida Ertmanska Publications for gene: HCK were set to 34536415; 41382121; 41920357; https://doi.org/10.11648/j.ajp.20190504.15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.14 | HCK | Ida Ertmanska Publications for gene: HCK were set to 34536415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.13 | HCK | Ida Ertmanska Mode of inheritance for gene: HCK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.12 | HCK | Ida Ertmanska Classified gene: HCK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.12 | HCK | Ida Ertmanska Added comment: Comment on list classification: There are now 5 unrelated families reported in literature with heterozygous HCK variants and autoinflammatory features, most commonly cutaneous and/or pulmonary vasculitis. Pulmonary fibrosis findings were noted in 3 unrelated cases. Hence, this gene can be promoted to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.12 | HCK | Ida Ertmanska Gene: hck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v1.11 | HCK | Ida Ertmanska reviewed gene: HCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 41382121, 41920357; Phenotypes: Autoinflammation with pulmonary and cutaneous vasculitis, OMIM:620296, autoinflammation with pulmonary and cutaneous vasculitis, MONDO:0957204; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v0.10 | HCK | Arina Puzriakova Entity copied from Primary immunodeficiency v2.568 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis, Familial v0.10 | HCK |
Arina Puzriakova gene: HCK was added gene: HCK was added to Pulmonary fibrosis familial. Sources: Literature,Expert Review Red Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCK were set to 34536415 Phenotypes for gene: HCK were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: HCK were set to unknown Mode of pathogenicity for gene: HCK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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