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| Combined Immunodeficiency v2.0 | NSMCE3 | Gene migrated from ENSG00000185115 to ENSG00000185115 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.147 | NSMCE3 | Zornitza Stark Publications for gene: NSMCE3 were set to 27427983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.146 | NSMCE3 | Zornitza Stark Classified gene: NSMCE3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.146 | NSMCE3 | Zornitza Stark Gene: nsmce3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.145 | NSMCE3 | Zornitza Stark edited their review of gene: NSMCE3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.145 | NSMCE3 |
Zornitza Stark edited their review of gene: NSMCE3: Added comment: Total of five families with severe childhood‑onset lung disease, variable combined T‑cell/B‑cell immunodeficiency and chromosome breakage. Three of these families were homozygous for the same missense variant, p.(Leu264Phe) - articles below. PMID: 40728043 | 1x paediatric case of lethal lung disease no history of failure to thrive, recurrent infections, or immunodeficiency. Compound heterozygous for p.(Lys260Ter) and p.(Pro105Ser). PMID: 33741030 | five patients from two unrelated families with biallelic NSMCE3 missense variants did not reveal immunodeficiency; though all presented with severe lung disease. All five patients were homozygous for a single missense variant in NSMCE3, p.(Leu264Phe), that was previously identified in the initial report (PMID: 27427983). PMID: 27427983 | 2x unrelated families with chromosome breakage syndrome with severe lung disease, 1xhom for p.(Leu264Phe), the other cHet for different missense.; Changed publications: 27427983, 40728043, 33741030 |
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| Combined Immunodeficiency v0.32 | NSMCE3 | Zornitza Stark Marked gene: NSMCE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.32 | NSMCE3 | Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.32 | NSMCE3 | Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.32 | NSMCE3 | Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.31 | NSMCE3 |
Zornitza Stark gene: NSMCE3 was added gene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSMCE3 were set to 27427983 Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Review for gene: NSMCE3 was set to AMBER Added comment: Two unrelated families, some functional data. Sources: Expert list |
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