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Primary immunodeficiency or monogenic inflammatory bowel disease v4.196 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Combined immunodeficiency; Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400; Combined immunodeficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova Tag for-review was removed from gene: RECQL4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 RECQL4 Arina Puzriakova commented on gene: RECQL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 RECQL4 Arina Puzriakova Source Expert Review Green was added to RECQL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 RECQL4 Arina Puzriakova Classified gene: RECQL4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.357 RECQL4 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 v2.357 RECQL4 Arina Puzriakova Gene: recql4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.356 RECQL4 Arina Puzriakova Tag for-review tag was added to gene: RECQL4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Classified gene: RECQL4 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.89 RECQL4 Sarah Leigh Gene: recql4 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.88 RECQL4 Sarah Leigh Publications for gene: RECQL4 were set to 16630167
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Classified gene: RECQL4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases in which immunodeficiecy was a feature (PMID 16630167; 21143835; 26064716). In addition RECQL4 variants have been implicated in Acrodermatitis Enteropathica caused by SLC39A4 (p.Gly512Trp)(PMID 30174688)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.87 RECQL4 Sarah Leigh Gene: recql4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Louise Daugherty marked gene: RECQL4 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Louise Daugherty edited their review of gene: RECQL4
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Sophie Hambleton reviewed gene: RECQL4
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Louise Daugherty reviewed RECQL4
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RECQL4 Louise Daugherty Added gene to panel