| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial pulmonary fibrosis v1.13 | FARSB | Arina Puzriakova changed review comment from: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.13 | FARSB | Arina Puzriakova Tag for-review was removed from gene: FARSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.13 | FARSB | Arina Puzriakova Classified gene: FARSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.13 | FARSB | Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.12 | FARSB | Arina Puzriakova Classified gene: FARSB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.12 | FARSB | Arina Puzriakova Gene: farsb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova Tag for-review tag was added to gene: FARSB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova changed review comment from: Comment on list classification: Rating Green following consultation with the clinical team - sufficient number of cases with the relevant phenotype.; to: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team), it was agreed that there is sufficient evidence/number of cases with the relevant phenotype to rate this gene Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova Classified gene: FARSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova Added comment: Comment on list classification: Rating Green following consultation with the clinical team - sufficient number of cases with the relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.11 | FARSB | Arina Puzriakova Gene: farsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.10 | FARSB |
Arina Puzriakova gene: FARSB was added gene: FARSB was added to Familial pulmonary fibrosis. Sources: Literature Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 29979980; 30014610 Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications, 613658 Review for gene: FARSB was set to GREEN Added comment: Associated with Rajab interstitial lung disease with brain calcifications in OMIM, but not in G2P. Biallelic variants are associated with a multisystem disorder characterised by interstitial lung disease, cerebral aneurysms and brain calcifications, cirrhosis, and failure to thrive. Antonellis et al. (2018) (PMID: 29573043) - Compound heterozygous variants (c.767C>T, p.Thr256Met; c.1486delCinsAA, p.His496Lysfs*14) identified in a male. Chest CT at 1.5 years and chest radiographs at 22 months, showed subpleural cystic changes in the bilateral lungs consistent with interstitial lung disease. Expression studies using patient fibroblasts showed severe depletion in protein levels, with indication of a loss-off-function effect. Xu et al. 2018 (PMID: 29979980) - five affected individuals from four families with biallelic FARSB variants. All five participants described presented interstitial lung disease defined by cholesterol pneumonitis. Zadjali et al. (2018) (PMID: 30014610) - eight affected individuals from a large consanguineous Omani family revealed homozygosity for a missense variant (c.853G>A, p.Glu285Lys). Respiratory failure and interstitial lung disease was a constant finding among affected individuals, with onset during the second decade of life. Sources: Literature |
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