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Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 SEC61A1 Achchuthan Shanmugasundram Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.104 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Hypogammaglobulinaemia; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.103 SEC61A1 Achchuthan Shanmugasundram Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia
Primary immunodeficiency or monogenic inflammatory bowel disease v4.102 SEC61A1 Achchuthan Shanmugasundram Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120; 27392076
Primary immunodeficiency or monogenic inflammatory bowel disease v4.101 SEC61A1 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SEC61A1.
Tag Q4_23_NHS_review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.100 SEC61A1 Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28782633, 32325141; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.41 SEC61A1 Hannah Knight reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32325141; Phenotypes: Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.530 SEC61A1 Arina Puzriakova Tag for-review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 SEC61A1 Arina Puzriakova commented on gene: SEC61A1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 FAAP24 Eleanor Williams edited their review of gene: FAAP24: Added comment: Not associated with a phenotype in OMIM.

PMID: 17289582 - Ciccia et al 2007 - report that FAAP24 (C19ORF40) is a component of the Fanconi anemia (FA) core complex and interacts with the C-terminal region of FANCM. FAAP24 is required for normal levels of FANCD2 monoubiquitylation following DNA damage.

PMID: 27473539 - Daschkey et al 2016 - report a homozygous missense mutation in FAAP24 (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoproliferative disease after infection with a variant EBV strain, expressing a previously unknown EBNA2 allele.; Changed rating: RED; Changed phenotypes: EBV-associated lymphoproliferative disease; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Tag watchlist was removed from gene: SEC61A1.
Tag for-review tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Classified gene: SEC61A1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.170 SEC61A1 Ivone Leong Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.169 SEC61A1 Ivone Leong Tag watchlist tag was added to gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.94 SEC61A1 Ivone Leong Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Severe recurrent respiratory tract infections; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Added comment: Comment on publications: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses.

Hypothesis:
This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials.

Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/

Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/

Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/
The gene is involved in acute pancreatitis in mice
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 SEC61A1 Louise Daugherty reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28782633; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 SEC61A1 Louise Daugherty Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 SEC61A1 Louise Daugherty gene: SEC61A1 was added
gene: SEC61A1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61A1 were set to 32048120; 32086639
Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Louise Daugherty commented on gene: TMC6: 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 ERCC6L2 Louise Daugherty commented on gene: ERCC6L2: 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 C6 Louise Daugherty commented on gene: C6: 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 TMC6 Louise Daugherty commented on gene: TMC6: 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 ERCC6L2 Louise Daugherty edited their review of gene: ERCC6L2: Added comment: 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.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Louise Daugherty commented on gene: C6: 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 TMC6 Kimberly Gilmour reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Kimberly Gilmour reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Kimberly Gilmour reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMC6 Tracy Briggs reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 ERCC6L2 Tracy Briggs reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C6 Tracy Briggs reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMC6 Louise Daugherty Source NHS GMS was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 ERCC6L2 Louise Daugherty Source NHS GMS was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C6 Louise Daugherty Source NHS GMS was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMC6 Louise Daugherty Source North West GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 ERCC6L2 Louise Daugherty Source North West GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C6 Louise Daugherty Source North West GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMC6 Louise Daugherty Source London North GLH was added to TMC6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 ERCC6L2 Louise Daugherty Source London North GLH was added to ERCC6L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C6 Louise Daugherty Source London North GLH was added to C6.
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty marked gene: ERCC6L2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty classified ERCC6L2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty commented on gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty edited their review of gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty commented on gene: C6
Primary immunodeficiency or monogenic inflammatory bowel disease ERCC6L2 Sophie Hambleton reviewed gene: ERCC6L2
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty marked gene: TMC6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Sophie Hambleton reviewed gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty marked gene: C6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty classified C6 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty edited their review of gene: C6
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Eleanor Williams classified TMC6 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Eleanor Williams commented on gene: TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Sophie Hambleton reviewed gene: C6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty commented on C6
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty classified TMC6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty commented on TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty commented on TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty commented on C6
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty commented on TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty commented on C6
Primary immunodeficiency or monogenic inflammatory bowel disease TMC6 Louise Daugherty reviewed TMC6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty reviewed C6
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease C6 Louise Daugherty Added gene to panel