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Primary immunodeficiency or monogenic inflammatory bowel disease v8.65 SLC39A4 Arina Puzriakova Classified gene: SLC39A4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.65 SLC39A4 Arina Puzriakova Added comment: Comment on list classification: Added to this panel per suggestion of the Genomics England Clinical Team as features of acrodermatitis enteropathica overlap with immunodeficiency. This gene is already green on several GMS panels and therefore can be promoted to green on this panel at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.65 SLC39A4 Arina Puzriakova Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.64 SLC39A4 Arina Puzriakova Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) to Acrodermatitis enteropathica, OMIM:201100; Disorder of zinc metabolism
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC39A4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Classified gene: SLC39A4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.63 SLC39A4 Arina Puzriakova Gene: slc39a4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.62 SLC39A4 Arina Puzriakova Entity copied from Likely inborn error of metabolism v8.82
Primary immunodeficiency or monogenic inflammatory bowel disease v8.62 SLC39A4 Arina Puzriakova gene: SLC39A4 was added
gene: SLC39A4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: London North GLH,Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
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)