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Primary immunodeficiency or monogenic inflammatory bowel disease v2.549 C17orf62 Arina Puzriakova Phenotypes for gene: C17orf62 were changed from Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease to Chronic granulomatous disease 5, autosomal recessive, OMIM:618935; Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 C17orf62 Catherine Snow Tag gene-checked tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova Tag for-review was removed from gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 C17orf62 Arina Puzriakova commented on gene: C17orf62: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 C17orf62 Arina Puzriakova Source Expert Review Green was added to C17orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Classified gene: C17orf62 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.352 C17orf62 Arina Puzriakova Gene: c17orf62 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.351 C17orf62 Arina Puzriakova Tag for-review tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Classified gene: C17orf62 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. 6 Icelandic related cases with same variant, another variant identified in Saudia Arabian individual with related phenotype. Mouse model and functional studies support the role of this gene in Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 C17orf62 Eleanor Williams Gene: c17orf62 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.122 C17orf62 Eleanor Williams Phenotypes for gene: C17orf62 were changed from Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function; Chronic granulomatous disease
Primary immunodeficiency or monogenic inflammatory bowel disease v2.121 C17orf62 Eleanor Williams Publications for gene: C17orf62 were set to 30312704; 30361506; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.120 C17orf62 Eleanor Williams commented on gene: C17orf62
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 C17orf62 Zornitza Stark reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 30361506, 30312704, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C17orf62 Louise Daugherty edited their review of gene: C17orf62: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 30361506, 30312704
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C17orf62 Louise Daugherty Publications for gene C17orf62 were updated from 32086639; 32048120 to 30312704; 30361506; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty commented on gene: C17orf62
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty Tag new-gene-name tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 C17orf62 Louise Daugherty gene: C17orf62 was added
gene: C17orf62 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 32086639; 32048120
Phenotypes for gene: C17orf62 were set to Autosomal recessive CGD EROS; Congenital defects of phagocyte number or function