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Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.479 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.479 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 CLCN7 Louise Daugherty Source IUIS Classification December 2019 was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7
Publications for gene CLCN7 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty commented on gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty marked gene: CLCN7 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty reviewed gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Sophie Hambleton reviewed gene: CLCN7
Primary immunodeficiency or monogenic inflammatory bowel disease CLCN7 Louise Daugherty Added gene to panel