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Primary immunodeficiency or monogenic inflammatory bowel disease v4.193 SMARCAL1 Arina Puzriakova Added comment: Comment on phenotypes: Previous (overwritten) phenotypes: Schimke disease;Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure;Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v4.193 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900; Schimke disease; Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure; Combined immunodeficiencies with associated or syndromic features to Schimke immunoosseous dysplasia, OMIM:242900
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Classified gene: SMARCAL1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.312 SMARCAL1 Eleanor Williams Gene: smarcal1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 SMARCAL1 Eleanor Williams Source Other was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 SMARCAL1 Eleanor Williams edited their review of gene: SMARCAL1: Added comment: The following PubMed IDs were added to gene SMARCAL1 (OMIM gene MIM#606622): 17089404;11799392. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 17089404, 11799392
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Louise Daugherty commented on gene: SMARCAL1: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Kimberly Gilmour reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 SMARCAL1 Tracy Briggs reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 SMARCAL1 Louise Daugherty Source North West GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 SMARCAL1 Louise Daugherty Source London North GLH was added to SMARCAL1.
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty edited their review of gene: SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty marked gene: SMARCAL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Sophie Hambleton reviewed gene: SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Eleanor Williams classified SMARCAL1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Eleanor Williams commented on SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty classified SMARCAL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty classified SMARCAL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty commented on SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty commented on SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty commented on SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty reviewed SMARCAL1
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease SMARCAL1 Louise Daugherty Added gene to panel