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| Common Variable Immunodeficiency v1.12 | SEC61A1 | Zornitza Stark Phenotypes for gene: SEC61A1 were changed from hypogammaglobulinemia; common variable immunodeficiency to Immunodeficiency, common variable, 15, MIM# 620670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.11 | SEC61A1 | Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.11 | SEC61A1 | Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.10 | SEC61A1 | Zornitza Stark edited their review of gene: SEC61A1: Added comment: Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.; Changed publications: 28782633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.10 | SEC61A1 | Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 15, MIM# 620670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.70 | SEC61A1 | Bryony Thompson Marked gene: SEC61A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.70 | SEC61A1 | Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.70 | SEC61A1 | Bryony Thompson Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.70 | SEC61A1 | Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.69 | SEC61A1 | Bryony Thompson edited their review of gene: SEC61A1: Changed publications: 28782633, 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.69 | SEC61A1 |
Bryony Thompson changed review comment from: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays. Sources: Expert list; to: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120). Sources: Expert list |
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| Common Variable Immunodeficiency v0.69 | SEC61A1 |
Bryony Thompson gene: SEC61A1 was added gene: SEC61A1 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 28782633 Phenotypes for gene: SEC61A1 were set to hypogammaglobulinemia; common variable immunodeficiency Review for gene: SEC61A1 was set to AMBER Added comment: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays. Sources: Expert list |
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