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Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic variants in this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.113 NLRP1 Achchuthan Shanmugasundram Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.112 NLRP1 Achchuthan Shanmugasundram Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis, 617388 to Autoinflammation with arthritis and dyskeratosis, OMIM:617388; ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803; Palmoplantar carcinoma, multiple self-healing, OMIM:615225; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579
Primary immunodeficiency or monogenic inflammatory bowel disease v4.111 NLRP1 Achchuthan Shanmugasundram Publications for gene: NLRP1 were set to 27965258; 31484767; 27662089; 29850521
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in both OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram changed review comment from: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function variants.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).; to: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be of gain-of-function.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.110 NLRP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NLRP1 was changed from None to Other
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NLRP1.
Tag Q4_23_NHS_review tag was added to gene: NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram commented on gene: NLRP1: There are five unrelated cases with monoallelic NLRP1 variants and three unrelated cases with biallelic NLRP1 variants. Some of these variants are reported to be gain-of-function variants.

This gene has been associated with multiple relevant phenotypes in OMIM and Gene2Phenotype (eye panel).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram edited their review of gene: NLRP1: Changed mode of pathogenicity: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram edited their review of gene: NLRP1: Changed publications to: 27662089, 27965258, 31484767, 31873740
Primary immunodeficiency or monogenic inflammatory bowel disease v4.109 NLRP1 Achchuthan Shanmugasundram reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27662089, 27965258, 31484767, 3187374; Phenotypes: Autoinflammation with arthritis and dyskeratosis, OMIM:617388, ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803, Palmoplantar carcinoma, multiple self-healing, OMIM:615225, {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 NLRP1 Hannah Knight reviewed gene: NLRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31873740; Phenotypes: Autoinflammatory disease with corneal and mucosal dyskeratosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.511 NLRP12 Arina Puzriakova Phenotypes for gene: NLRP12 were changed from Familial cold autoinflammatory syndrome 2, 611762; preterm premature rupture of membranes (PPROM); Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.; Autoinflammatory Disorders to Familial cold autoinflammatory syndrome 2, OMIM:611762; Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure; Preterm premature rupture of membranes (PPROM); Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Classified gene: NLRP12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.286 NLRP12 Eleanor Williams Gene: nlrp12 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.213 NLRP1 Eleanor Williams Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.213 NLRP1 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 v2.213 NLRP1 Eleanor Williams Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP1 Eleanor Williams Source Other was added to NLRP1.
Publications for gene NLRP1 were updated from 29850521; 27662089; 31484767; 27965258 to 27965258; 31484767; 27662089; 29850521
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 NLRP12 Eleanor Williams Source Other was added to NLRP12.
Publications for gene NLRP12 were updated from 18230725; 27779193; 27633793; 29178652; 29248470 to 18230725; 27633793; 29178652; 21360512; 27779193; 29248470
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP12 Eleanor Williams reviewed gene: NLRP12: Rating: ; Mode of pathogenicity: ; Publications: 18230725, 27633793, 21360512; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 NLRP1 Eleanor Williams reviewed gene: NLRP1: Rating: ; Mode of pathogenicity: ; Publications: 27965258; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.199 NLRP1 Eleanor Williams Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis, 617388
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 NLRP1 Rebecca Foulger commented on gene: NLRP1: PMID:27662089: Zhong et al., 2016 report germline GOF variants in NLRP1 which cause two overlapping skin disorders (MSPC and FKLC), linking NLRP1 to skin inflammatory syndromes.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.138 NLRP1 Rebecca Foulger commented on gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Added comment: Added publication referenced by IUIS december 2019 update; Changed publications: 27662089, 31484767
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 NLRP1 Louise Daugherty Publications for gene NLRP1 were updated from 27965258; 29850521 to 29850521; 27662089; 31484767; 27965258
Primary immunodeficiency or monogenic inflammatory bowel disease v2.29 NLRP1 Louise Daugherty Phenotypes for gene: NLRP1 were changed from Dyskeratosis, autoimmunity and arthritis; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis to Dyskeratosis, autoimmunity and arthritis; Palmoplantar carcinoma, corneal scarring; Autoinflammatory Disorders; Autoinflammation with arthritis and dyskeratosis
Primary immunodeficiency or monogenic inflammatory bowel disease v2.27 NLRP1 Louise Daugherty commented on gene: NLRP1: Original Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): NLRP1 .PanelApp HGNC gene symbol check: NLRP1 . IUIS Disease: NLRP1 deficiency . IUIS Inheritance: AR / AD GOF .T cells: Normal / Normal, .B cells: Normal / Normal, Immunoglobulin levels: Normal / Normal, Neutrophil count: Normal / Normal IUIS Other affected cells: leukocytes / Keratinocytes. IUIS Associated features: Dyskeratosis, autoimmunity and arthritis / Palmoplantar carcinoma, corneal scarring, IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Defects Affecting the Inflammasome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.137 NLRP1 Louise Daugherty commented on gene: NLRP1: Gene was flagged as requiring further clinical input from the Immunology Test Group, but no additional information was submitted to support the Green rating. In view of a lack of clear evidence the current recommendation is Amber.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 NLRP1 Louise Daugherty commented on gene: NLRP1: Autoinflammation - two cases, ?AD / AR – unclear
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two reported cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty changed review comment from: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.; to: Comment on list classification: Upgraded from Red to Amber. This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Classified gene: NLRP1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Added comment: Comment on list classification: This is a relevant phenotype but there is not enough evidence in the literature to date (only two cases) and there has been no further evidence in terms of unpublished cases other than a Green rating recommendation from the Immunology Specialist Test Group. To remain Amber unless further supporting evidence from the Test Group.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.101 NLRP1 Louise Daugherty Gene: nlrp1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.99 NLRP1 Louise Daugherty edited their review of gene: NLRP1: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP1 Louise Daugherty commented on gene: NLRP1: 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 NLRP12 Louise Daugherty commented on gene: NLRP12: 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 NLRP1 Louise Daugherty edited their review of gene: NLRP1: 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 NLRP12 Kimberly Gilmour reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Kimberly Gilmour reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP12 Tracy Briggs reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 NLRP1 Tracy Briggs reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP12 Louise Daugherty Source NHS GMS was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 NLRP1 Louise Daugherty Source NHS GMS was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP12 Louise Daugherty Source North West GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 NLRP1 Louise Daugherty Source North West GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP12 Louise Daugherty Source London North GLH was added to NLRP12.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 NLRP1 Louise Daugherty Source London North GLH was added to NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty marked gene: NLRP1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty commented on gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty edited their review of gene: NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty reviewed gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Sophie Hambleton reviewed gene: NLRP1
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP1 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty marked gene: NLRP12 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Sophie Hambleton reviewed gene: NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Sarah Leigh classified NLRP12 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty commented on NLRP12
Primary immunodeficiency or monogenic inflammatory bowel disease NLRP12 Louise Daugherty reviewed NLRP12