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Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: TBX1.
Tag Q1_23_NHS_review was removed from gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 TBX1 Arina Puzriakova commented on gene: TBX1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 TBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBX1.
Source NHS GMS was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.9 TBX1 Arina Puzriakova Publications for gene: TBX1 were set to 11242110; 32048120; 32086639; 14585638; 24198816; 12548732
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Classified gene: TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Added comment: Comment on list classification: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that there is sufficient evidence to promote this gene to Green on this panel (at least three cases of immune involvement) at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.8 TBX1 Arina Puzriakova Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v3.7 TBX1 Arina Puzriakova Phenotypes for gene: TBX1 were changed from Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Di George syndrome; Severe combined immunodeficiency (SCID); DiGeorge syndrome 188400; T-B+ SCID; Combined immunodeficiencies with associated or syndromic features to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TBX1 Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.6 TBX1 Arina Puzriakova reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 TBX1 Arina Puzriakova Tag Q1_23_NHS_review tag was added to gene: TBX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 TBX1 Ronnie Wright reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.216 TBX1 Eleanor Williams Classified gene: TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.216 TBX1 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber 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 v2.216 TBX1 Eleanor Williams Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TBX1 Eleanor Williams Source Other was added to TBX1.
Publications for gene TBX1 were updated from 11242110; 14585638; 24198816; 32048120; 32086639 to 11242110; 32048120; 32086639; 14585638; 24198816; 12548732
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TBX1 Eleanor Williams edited their review of gene: TBX1: Added comment: The following PubMed IDs were added to entity TBX1: 12548732. These publications have been associated with OMIM phenotype MIM#188400, which is listed for this entity, 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: 12548732
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 TBX1 Louise Daugherty Source IUIS Classification December 2019 was added to TBX1.
Added phenotypes Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: TBX1
Publications for gene TBX1 were updated from 24198816; 14585638; 11242110 to 11242110; 14585638; 24198816; 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty marked gene: TBX1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty commented on gene: TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Eleanor Williams classified TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Eleanor Williams commented on gene: TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty classified TBX1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty commented on TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty commented on TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty commented on TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty reviewed TBX1
Primary immunodeficiency or monogenic inflammatory bowel disease TBX1 Louise Daugherty Added gene to panel