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Combined Immunodeficiency v2.7 PRIM1 chirag patel Phenotypes for gene: PRIM1 were changed from primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276
Combined Immunodeficiency v2.6 chirag patel Added reviews for gene PRIM1 from panel Mendeliome
Combined Immunodeficiency v2.0 PRIM1 Gene migrated from ENSG00000198056 to ENSG00000198056 (gene set migration)
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Marked gene: PRIM1 as ready
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson changed review comment from: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list; to: 8 cases from 6 families with combined immunodeficiency a feature of the condition. IUIS IEI committee classify the gene in the subcategory Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency.
Sources: Expert list
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Classified gene: PRIM1 as Green List (high evidence)
Combined Immunodeficiency v1.86 PRIM1 Bryony Thompson Gene: prim1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.85 PRIM1 Bryony Thompson gene: PRIM1 was added
gene: PRIM1 was added to Combined Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134; 38773012
Phenotypes for gene: PRIM1 were set to primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Review for gene: PRIM1 was set to GREEN
Added comment: 8 cases from 6 families with combined immunodeficiency a feature of the condition.
Sources: Expert list