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| Pulmonary Fibrosis_Interstitial Lung Disease v2.3 | TMEM63B | Zornitza Stark Phenotypes for gene: TMEM63B were changed from Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related to Lung-brain developmental disorder, MIM# 621645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.2 | TMEM63B | Zornitza Stark edited their review of gene: TMEM63B: Changed phenotypes: Lung-brain developmental disorder, MIM# 621645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.2 | TMEM63B | Zornitza Stark Marked gene: TMEM63B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.2 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.2 | TMEM63B | Zornitza Stark Classified gene: TMEM63B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.2 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.1 | TMEM63B |
Zornitza Stark gene: TMEM63B was added gene: TMEM63B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: TMEM63B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63B were set to 42259295 Phenotypes for gene: TMEM63B were set to Hereditary pulmonary alveolar proteinosis, MONDO:0012580, TMEM63B-related Review for gene: TMEM63B was set to GREEN Added comment: PMID: 42259295 Chan et al 2026 report five individuals from four unrelated families with childhood interstitial lung disease and biallelic predicted loss-of-function variants in TMEM63B. Other phenotypic characteristics include moderate/severe developmental delay (5/5), white matter changes, (1/5), mild global atrophy on brain imaging (1/5) and severe short stature (2/5). None of the individuals had epilepsy or hearing loss. Individuals were from Saudi Arabian, Malay, European and Native American ethnicities. 5 different variants were reported including nonsense, frameshift and splice donor variants. The authors report that while there are 53 TMEM63B pLoF variants in gnomAD v.4.1.0 database none are in the homozygous state. Histopathological examination of lung tissue also showed a pattern consistent with surfactant dysfunction. The authors conclude that biallelic loss of function variants result in a distinct pulmonary-predominant phenotype characterized by hypoxaemia, early-onset respiratory failure, histological features of surfactant dysfunction, and chest imaging consistent with chILD. Sources: Literature |
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