| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Classified gene: SRRM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Marked gene: SRRM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Classified gene: SRRM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.92 | SRRM2 | Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v0.91 | SRRM2 |
Zornitza Stark gene: SRRM2 was added gene: SRRM2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRRM2 were set to 40967764 Phenotypes for gene: SRRM2 were set to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Review for gene: SRRM2 was set to GREEN Added comment: Four de novo loss-of-function (LoF) variants in SRRM2 were identified in 4 out of 71 patients with persistent tachypnoea of infancy, suggesting this is part of the phenotypic spectrum for this condition. All four had mild DD/ID. Sources: Literature |
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