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| Mendeliome v1.4117 | S100A3 |
Zornitza Stark gene: S100A3 was added gene: S100A3 was added to Mendeliome. Sources: Literature digenic tags were added to gene: S100A3. Mode of inheritance for gene: S100A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: S100A3 were set to 40497957; 38099297; 31073086 Phenotypes for gene: S100A3 were set to Pulmonary fibrosis, MONDO:0002771, S100A3-related Review for gene: S100A3 was set to RED Added comment: PMID 31073086 reports 13 individuals from 2 unrelated families, with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by hypomorphic S100A3 missense variant in a digenic context with high impact S100A13 homozygous variant. Functional studies in patient‑derived fibroblasts, iPSC‑derived alveolar cells and rescue experiments demonstrate reduced S100A3 expression, impaired calcium signalling, mitochondrial dysfunction and cytokine dysregulation, supporting pathogenicity. However, note variant c.229C>T (p.R77C) is present in homozygous state in 12 individuals in gnomAD v4, hence S100A3 variant may be solely responsible. Sources: Literature |
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| Mendeliome v1.4116 | S100A13 |
Zornitza Stark changed review comment from: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. Sources: Literature; to: PMID 31073086 reports 13 individuals from 2 families with early‑onset (age 12-15) atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. Sources: Literature |
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| Mendeliome v1.4116 | S100A13 | Zornitza Stark Marked gene: S100A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4116 | S100A13 | Zornitza Stark Gene: s100a13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4116 | S100A13 |
Zornitza Stark gene: S100A13 was added gene: S100A13 was added to Mendeliome. Sources: Literature digenic tags were added to gene: S100A13. Mode of inheritance for gene: S100A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: S100A13 were set to 40497957; 38099297; 31073086 Phenotypes for gene: S100A13 were set to Pulmonary fibrosis, MONDO:0002771, S100A13-related Review for gene: S100A13 was set to RED Added comment: PMID 31073086 reports 13 individuals from 2 families with early‑onset atypical familial pulmonary fibrosis caused by homozygous loss‑of‑function truncating S100A13 variants in digenic combination with S100A3 homozygous missense variant; functional studies in patient fibroblasts and iPSC‑derived alveolar cells show reduced S100A13 expression, altered calcium signalling and mitochondrial dysfunction that are rescued by wild‑type S100A13. Sources: Literature |
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