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Autoinflammatory disorders v2.35 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Autoinflammatory disorders v2.34 TBK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TBK1.
Tag Q2_25_ NHS_review was removed from gene: TBK1.
Autoinflammatory disorders v2.34 RIPK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: RIPK1.
Tag Q2_25_ NHS_review was removed from gene: RIPK1.
Autoinflammatory disorders v2.34 RELA Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: RELA.
Tag Q2_25_ NHS_review was removed from gene: RELA.
Autoinflammatory disorders v2.34 POMP Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: POMP.
Tag Q2_25_ NHS_review was removed from gene: POMP.
Autoinflammatory disorders v2.34 IKBKG Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: IKBKG.
Tag Q2_25_ NHS_review was removed from gene: IKBKG.
Autoinflammatory disorders v2.34 ELF4 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ELF4.
Tag Q2_25_ NHS_review was removed from gene: ELF4.
Autoinflammatory disorders v2.34 COPA Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: COPA.
Tag Q2_25_ NHS_review was removed from gene: COPA.
Autoinflammatory disorders v2.34 ALPK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ALPK1.
Tag Q2_25_ NHS_review was removed from gene: ALPK1.
Autoinflammatory disorders v2.34 TBK1 Achchuthan Shanmugasundram commented on gene: TBK1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v2.34 RIPK1 Achchuthan Shanmugasundram commented on gene: RIPK1: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v2.34 RELA Achchuthan Shanmugasundram reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v2.34 POMP Achchuthan Shanmugasundram reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v2.34 IKBKG Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v2.34 ELF4 Achchuthan Shanmugasundram commented on gene: ELF4: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v2.34 COPA Achchuthan Shanmugasundram reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v2.34 ALPK1 Achchuthan Shanmugasundram commented on gene: ALPK1: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v2.33 TBK1 Achchuthan Shanmugasundram Source NHS GMS was added to TBK1.
Source Expert Review Green was added to TBK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 RIPK1 Achchuthan Shanmugasundram Source NHS GMS was added to RIPK1.
Source Expert Review Green was added to RIPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 RELA Achchuthan Shanmugasundram Source NHS GMS was added to RELA.
Source Expert Review Green was added to RELA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 POMP Achchuthan Shanmugasundram Source NHS GMS was added to POMP.
Source Expert Review Green was added to POMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 IKBKG Achchuthan Shanmugasundram Source NHS GMS was added to IKBKG.
Source Expert Review Green was added to IKBKG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 ELF4 Achchuthan Shanmugasundram Source NHS GMS was added to ELF4.
Source Expert Review Green was added to ELF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 COPA Achchuthan Shanmugasundram Source NHS GMS was added to COPA.
Source Expert Review Green was added to COPA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.33 ALPK1 Achchuthan Shanmugasundram Source NHS GMS was added to ALPK1.
Source Expert Review Green was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Autoinflammatory disorders v2.32 ITCH Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ITCH.
Tag Q3_25_NHS_review tag was added to gene: ITCH.
Autoinflammatory disorders v2.32 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, 613385 to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Autoinflammatory disorders v2.31 ITCH Achchuthan Shanmugasundram Publications for gene: ITCH were set to PMID: 36338154
Autoinflammatory disorders v2.30 ITCH Achchuthan Shanmugasundram Classified gene: ITCH as Amber List (moderate evidence)
Autoinflammatory disorders v2.30 ITCH Achchuthan Shanmugasundram Gene: itch has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska edited their review of gene: ITCH: Changed publications to: 18727493, 20170897, 30705142, 31091003, 33894394, 36338154
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska edited their review of gene: ITCH: Changed phenotypes to: Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385, syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska edited their review of gene: ITCH: Changed publications to: 20170897, 30705142, 31091003, 33894394, 36338154
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska changed review comment from: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR) and a decrease in cellular ATP production.

PMID: 33894394 Patel et al., 2022
Male patient compound heterozygous NM_001257137(ITCH): (c.337+2T>C) and (c.772C>T; p.Arg258*). Method: WES. Phenotype: multi-system immune dysregulation presenting with growth failure, very early onset inflammatory bowel disease (VEO-IBD), arthritis, uveitis, psoriasis and type 1 diabetes mellitus. Reported reduced expression of ITCH mRNA and absent ITCH protein. Immune dysregulation was successfully treated with hematopoietic cell transplantation.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.; to: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient-derived ITCH-deficient fibroblasts, including reduced oxygen consumption (OCR) and a decrease in cellular ATP production.

PMID: 33894394 Patel et al., 2022
Male patient compound heterozygous NM_001257137(ITCH): (c.337+2T>C) and (c.772C>T; p.Arg258*). Method: WES. Phenotype: multi-system immune dysregulation presenting with growth failure, very early onset inflammatory bowel disease (VEO-IBD), arthritis, uveitis, psoriasis and type 1 diabetes mellitus. Reported reduced expression of ITCH mRNA and absent ITCH protein. Immune dysregulation was successfully treated with hematopoietic cell transplantation.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska commented on gene: ITCH: Comment on list classification:
There are at least 14 patients from 5 unrelated families with biallelic variants in ITCH. ITCH deficiency may result in multi-systemic immune dysregulation (present in 9/14 reported patients), dysmorphic features (14/14), developmental delay (14/14), relative macrocephaly (13/14), chronic lung disease (13/14), hepatomegaly/splenomegaly (10/14), and hypotonia (8/14). Based on available evidence, ITCH should be rated Green for autoinflammatory disorders.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska changed review comment from: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR) and a decrease in cellular ATP production.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.; to: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR) and a decrease in cellular ATP production.

PMID: 33894394 Patel et al., 2022
Male patient compound heterozygous NM_001257137(ITCH): (c.337+2T>C) and (c.772C>T; p.Arg258*). Method: WES. Phenotype: multi-system immune dysregulation presenting with growth failure, very early onset inflammatory bowel disease (VEO-IBD), arthritis, uveitis, psoriasis and type 1 diabetes mellitus. Reported reduced expression of ITCH mRNA and absent ITCH protein. Immune dysregulation was successfully treated with hematopoietic cell transplantation.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska changed review comment from: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR), flux through fatty acid oxidation, and a decrease in cellular ATP production.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.; to: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR) and a decrease in cellular ATP production.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska edited their review of gene: ITCH: Changed publications to: 20170897, 30705142, 31091003, 36338154
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska changed review comment from: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a mutation in ITCH. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as systemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia). No access to full article.

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.; to: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 36338154 Wolfe et al., 2022
20yo non-consanguineous Caucasian female with novel ITCH variants: c.599dupC; p.(Ser201Ilefs*8) & deletion of exons 24 and 25. Phenotype: dysmorphic facial features, autoimmune disease including polymyositis, enteropathy, arthritis, psoriasis, hepatitis, and respiratory insufficiency; history of multiple hospitalizations for infections. Muscle biopsy showed 57% of expected mitochondrial DNA copy number but no change in the mitochondrial morphology. Demonstrated mitochondrial energy dysfunction in patient derived ITCH deficient fibroblasts, including reduced oxygen consumption (OCR), flux through fatty acid oxidation, and a decrease in cellular ATP production.

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a homozygous mutation in ITCH: c.1570-1G > A. Method: trio WES. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as multisystemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia).

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska changed review comment from: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a mutation in ITCH. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as systemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia). No access to full article.

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.; to: As reviewed by Nicholas Head, this gene is already Green on the Primary immunodeficiency or monogenic inflammatory bowel disease panel.
ITCH is associated with AR Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 (accessed 10th Oct 2025).

PMID: 31091003 Brittain et al, 2019
Report of a 23 yo female with biallelic truncating variants ITCH: paternally inherited c.726del; p.(Leu243SerfsTer63) and maternally inherited c.2125_2128del; p.(Glu710PhefsTer2) - neither variant found in gnomAD v4. No known consanguinity. Method: Trio Exome. Phenotype: marked short stature, severe early onset chronic lung disease resembling asthma, dysmorphic facial features, and symmetrical camptodactyly of the fingers but normal intellect.

PMID: 30705142 Kleine-Eggebrecht et al., 2019
1-year-old girl of consanguineous parents with a mutation in ITCH. Phenotype: dystrophy, short stature, psychomotor retardation, and muscular hypotonia, as well as systemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia). No access to full article.

PMID: 20170897 Lohr et al., 2010
Described 10 Amish patients from 8 consanguineous and related families with multisystem autoimmune disease with delayed gross motor and cognitive skills, and facial dysmorphism. 6 of the children had evidence of autoimmune disease, including hypothyroidism in four, autoimmune hepatitis in three, autoimmune enteropathy with chronic diarrhea in two, and one had diabetes. All individuals were homozygous for the variant NM_031483.6(ITCH): c.394dupA p.(Ile132Asnfs) - founder effect.

Functional evidence:
PMID: 18727493 Matesic et al. 2008
itch−/− mice develop an autoimmune-like disease characterized histologically by a mixed infiltrate in nearly every organ system, lymphoproliferation resulting in splenomegaly and lymphadenopathy, and cortical atrophy of the thymus; the KO mice also produce antinuclear antibodies.

Based on the available evidence, ITCH should be rated Green for Autoinflammatory disorders.
Autoinflammatory disorders v2.29 ITCH Ida Ertmanska reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897, 30705142, 31091003; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v2.29 ITCH Nicholas Head gene: ITCH was added
gene: ITCH was added to Autoinflammatory disorders. Sources: Other
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITCH were set to PMID: 36338154
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385
Review for gene: ITCH was set to GREEN
gene: ITCH was marked as current diagnostic
Added comment: Currently listed as a green gene on R15 panel. Causes a autoinflammatory disorder with multisystem involvement.
Sources: Other
Autoinflammatory disorders v2.29 RIPK1 Achchuthan Shanmugasundram Classified gene: RIPK1 as Amber List (moderate evidence)
Autoinflammatory disorders v2.29 RIPK1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available for the association of both monoallelic and biallelic variants in RIPK1 gene with autoinflammatory disease phenotypes (MIMs #618852 & 618108). Hence, this gene can be promoted to green rating in the next GMS update.
Autoinflammatory disorders v2.29 RIPK1 Achchuthan Shanmugasundram Gene: ripk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.28 RIPK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: RIPK1.
Tag Q2_25_ NHS_review tag was added to gene: RIPK1.
Autoinflammatory disorders v2.28 RIPK1 Achchuthan Shanmugasundram Phenotypes for gene: RIPK1 were changed from Autoinflammation with episodic fever and lymphadenopathy (autosomal dominant); Immunodeficiency 57 with autoinflammation (autosomal recessive) to Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852; Immunodeficiency 57 with autoinflammation, OMIM: 618108
Autoinflammatory disorders v2.27 RIPK1 Achchuthan Shanmugasundram Publications for gene: RIPK1 were set to PMID: 31911632; PMID: 31827281; PMID:31827280; PMID: 39557292; PMID: 37452601; PMID:35716229; PMID:35786329
Autoinflammatory disorders v2.26 RIPK1 Achchuthan Shanmugasundram reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 31827280, 31827281, 31911632, 35716229, 35786329, 39557292; Phenotypes: Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852, Immunodeficiency 57 with autoinflammation, OMIM: 618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory disorders v2.26 RELA Arina Puzriakova Publications for gene: RELA were set to PMID: 36926348; PMID: 32969189; PMID: 35412596; PMID: 28600438
Autoinflammatory disorders v2.25 RELA Arina Puzriakova Tag Q2_23_NHS_review was removed from gene: RELA.
Tag Q2_25_ NHS_review tag was added to gene: RELA.
Autoinflammatory disorders v2.25 RELA Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: RELA.
Tag Q2_23_NHS_review tag was added to gene: RELA.
Autoinflammatory disorders v2.25 RELA Arina Puzriakova Classified gene: RELA as Amber List (moderate evidence)
Autoinflammatory disorders v2.25 RELA Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

At least 7 unrelated cases identified in literature with monoallelic RELA variants and Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 which is characterised predominantly by intermittent fevers and chronic mucocutaneous ulceration although clinical presentation can be variable.
Autoinflammatory disorders v2.25 RELA Arina Puzriakova Gene: rela has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.24 TBK1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Autoinflammatory disorders v2.24 TBK1 Achchuthan Shanmugasundram changed review comment from: PMID:34363755 reported the identification of homozygous loss-of-function variants in TBK1 gene in four patients from three unrelated families. All of them presented with chronic and systemic autoinflammation, but not severe viral infections. Supporting functional evidence is also available.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620880).; to: PMID:34363755 reported the identification of three different homozygous loss-of-function variants in TBK1 gene in four patients from three unrelated families. All of them presented with chronic and systemic autoinflammation, but not severe viral infections. Supporting functional evidence is also available.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620880).
Autoinflammatory disorders v2.24 TBK1 Achchuthan Shanmugasundram Classified gene: TBK1 as Amber List (moderate evidence)
Autoinflammatory disorders v2.24 TBK1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Autoinflammatory disorders v2.24 TBK1 Achchuthan Shanmugasundram Gene: tbk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.23 TBK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: TBK1.
Tag Q2_25_ NHS_review tag was added to gene: TBK1.
Autoinflammatory disorders v2.23 TBK1 Achchuthan Shanmugasundram Phenotypes for gene: TBK1 were changed from chronic and systemic autoinflammation driven by TNF-induced cell death to Autoinflammation with arthritis and vasculitis, OMIM:620880
Autoinflammatory disorders v2.22 TBK1 Achchuthan Shanmugasundram Publications for gene: TBK1 were set to PMID: 34363755; PMID: 34210994; PMID: 28148298; PMID: 34363755
Autoinflammatory disorders v2.21 TBK1 Achchuthan Shanmugasundram reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34363755; Phenotypes: Autoinflammation with arthritis and vasculitis, OMIM:620880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v2.21 RELA Arina Puzriakova Phenotypes for gene: RELA were changed from Autoinflammatory disease, familial, behcet-like 3 to Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287
Autoinflammatory disorders v2.20 POMP Arina Puzriakova Classified gene: POMP as Amber List (moderate evidence)
Autoinflammatory disorders v2.20 POMP Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 4 unrelated cases with neonatal onset inflammatory disease and heterozygous LOF variants in the POMP gene (PMID: 26524591; 29805043; 38111302)
Autoinflammatory disorders v2.20 POMP Arina Puzriakova Gene: pomp has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.19 POMP Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: POMP.
Tag Q2_25_ NHS_review tag was added to gene: POMP.
Autoinflammatory disorders v2.19 POMP Arina Puzriakova Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043
Autoinflammatory disorders v2.18 POMP Arina Puzriakova Phenotypes for gene: POMP were changed from Proteasome-associated autoinflammatory syndrome 2 to Proteasome-associated autoinflammatory syndrome 2, OMIM:618048
Autoinflammatory disorders v2.17 IKBKG Arina Puzriakova Publications for gene: IKBKG were set to PMID: 35289316
Autoinflammatory disorders v2.16 IKBKG Arina Puzriakova Classified gene: IKBKG as Amber List (moderate evidence)
Autoinflammatory disorders v2.16 IKBKG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Variants in the IKBKG gene (also known as NEMO) can be linked to a autoinflammatory disorder characterised by the onset of systemic autoinflammation in the first months of life. Clinical manifestations are variable but include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. At least 9 unrelated cases have been reported, including two females (PMID: 31874111; 35120036; 35289316; 39264518).
Autoinflammatory disorders v2.16 IKBKG Arina Puzriakova Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.15 IKBKG Arina Puzriakova Phenotypes for gene: IKBKG were changed from Autoinflammatory disease, systemic, X-linked to Autoinflammatory disease, systemic, X-linked, OMIM:301081
Autoinflammatory disorders v2.14 IKBKG Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: IKBKG.
Tag Q2_25_ NHS_review tag was added to gene: IKBKG.
Autoinflammatory disorders v2.14 ELF4 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for this gene-disease association and hence this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available for this gene-disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Autoinflammatory disorders v2.14 ELF4 Achchuthan Shanmugasundram Classified gene: ELF4 as Amber List (moderate evidence)
Autoinflammatory disorders v2.14 ELF4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene-disease association and hence this gene can be promoted to green rating in the next GMS update.
Autoinflammatory disorders v2.14 ELF4 Achchuthan Shanmugasundram Gene: elf4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.13 ELF4 Achchuthan Shanmugasundram Phenotypes for gene: ELF4 were changed from Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074
Autoinflammatory disorders v2.12 ELF4 Achchuthan Shanmugasundram Publications for gene: ELF4 were set to PMID: 35266071; PMID: 34326534; PMID: 39976696; PMID: 39563044; PMID: 38773005; PMID: 38231408; PMID: 36823308
Autoinflammatory disorders v2.11 ELF4 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous variants and autoinflammatory disorder, the MOI has been set as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.

The 'skewed X-inactivation' tag has also been added.; to: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous ELF4 variants and autoinflammatory disorder in PMID:39976696, the MOI has been set as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.

The 'Skewed X-inactivation' tag has also been added as skewed X chromosome inactivation patterns were observed in all three female patients in the same publication.
Autoinflammatory disorders v2.11 ELF4 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous variants and autoinflammatory disorder, the MOI has been set as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.

The 'skewed X-inactivation' tag has also been added.
Autoinflammatory disorders v2.11 ELF4 Achchuthan Shanmugasundram Mode of inheritance for gene: ELF4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autoinflammatory disorders v2.10 ELF4 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: ELF4.
Tag Q2_25_ NHS_review tag was added to gene: ELF4.
Autoinflammatory disorders v2.10 ELF4 Achchuthan Shanmugasundram Tag Skewed X-inactivation tag was added to gene: ELF4.
Autoinflammatory disorders v2.10 ELF4 Achchuthan Shanmugasundram edited their review of gene: ELF4: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autoinflammatory disorders v2.10 ELF4 Achchuthan Shanmugasundram edited their review of gene: ELF4: Added comment: PMID:34326534 - Two variants identified in three unrelated males with autoinflammatory disease characterised by fever, oral ulcers and mucosal inflammation. Supported by functional studies and mouse model.

PMID:35266071 - Paediatric male patient identified with a hemizygous variant and was suffering from recurrent viral and bacterial respiratory infection, refractory oral ulcer, constipation, and arthritis. Supported by functional studies and mouse model.

PMID:36823308 - Five more male patients presenting mainly with oral ulcer, inflammatory bowel disease-like symptoms, fever of unknown origin, anaemia, or systemic lupus erythematosus.

PMID:38231408 - An international cohort of fourteen patients exhibiting a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, gastrointestinal symptoms, arthritis, arthralgia, and myalgia, with findings of increased inflammatory markers, anaemia, neutrophilic leukocytosis, thrombocytosis, intermittently low natural killer and class-switched memory B cells, and increased inflammatory cytokines in the serum.

PMID:38773005 - A 11-year-old boy presented with a Behcet's-like phenotype including elevated inflammatory indicators, ileocecal ulcers and inflammatory cell infiltrations. The patient was treated with long-term immunosuppressant and TNF-alpha blocker. Supporting functional studies available.

PMID:39563044 - Two male patients presented with recurrent oral ulcers and abdominal pain and had significant increase in inflammatory markers, multiple intestinal ulcers, and both patients developed intestinal fistulas.

PMID:39976696 - Three unrelated paediatric female patients, who are all heterozygous for ELF4 variants. Similar to reported male patients, the main clinical features include recurring oral ulcers, abdominal pain and diarrhoea with colonoscopy showing ulcers in the colon. Skewed X chromosome inactivation patterns were observed in all three female patients, with over-inactivation of the X chromosome carrying the wild-type allele confirmed in two of them.; Changed publications to: 34326534, 35266071, 36823308, 38231408, 38773005, 39563044, 39976696
Autoinflammatory disorders v2.10 ELF4 Achchuthan Shanmugasundram reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory disorders v2.10 COPA Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: COPA.
Autoinflammatory disorders v2.10 ALPK1 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review tag was added to gene: ALPK1.
Autoinflammatory disorders v2.10 ALPK1 Achchuthan Shanmugasundram Classified gene: ALPK1 as Amber List (moderate evidence)
Autoinflammatory disorders v2.10 ALPK1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available for the association of ALPK1 with an auto-inflammatory condition, ROSAH. Hence, this gene can be promoted to green rating on this panel in the next GMS update.
Autoinflammatory disorders v2.10 ALPK1 Achchuthan Shanmugasundram Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.9 ALPK1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: ALPK1.
Autoinflammatory disorders v2.9 ALPK1 Achchuthan Shanmugasundram Phenotypes for gene: ALPK1 were changed from Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH) to ROSAH syndrome, OMIM:614979
Autoinflammatory disorders v2.8 ALPK1 Achchuthan Shanmugasundram Publications for gene: ALPK1 were set to PMID: 30967659; PMID: 36332842; PMID: 38251500; PMID: 40069099; PMID: 35868845
Autoinflammatory disorders v2.7 ALPK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALPK1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Autoinflammatory disorders v2.6 ALPK1 Achchuthan Shanmugasundram changed review comment from: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association.

Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation.

In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease.

This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/.; to: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association.

Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation.

In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease.

Gain-of-function missense variants in ALPK1 were reported to cause ROSAH in PMID:35868845.

This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/.
Autoinflammatory disorders v2.6 ALPK1 Achchuthan Shanmugasundram commented on gene: ALPK1: This gene has been associated with ROSAH syndrome (MIM #614979) in OMIM. There is sufficient evidence available (>30 unrelated families) in support of this gene-disease association.

Nearly all patients exhibited at least one feature consistent with inflammation including recurrent fever, headaches with meningeal enhancement and premature basal ganglia/brainstem mineralisation on MRI, deforming arthritis, AA amyloidosis and intraocular inflammation.

In vitro assays and systematic analysis of inflammatory features also established ROSAH as an autoinflammatory disease.

This gene has already been promoted to green rating on R15 Primary immunodeficiency or monogenic inflammatory bowel disease panel (https://panelapp.genomicsengland.co.uk/panels/398/gene/ALPK1/). It is also green on Autoinflammatory Disorders panel from PanelApp Australia - https://panelapp-aus.org/panels/238/gene/ALPK1/.
Autoinflammatory disorders v2.6 ALPK1 Achchuthan Shanmugasundram Source Literature was added to ALPK1.
Autoinflammatory disorders v2.5 ALPK1 Achchuthan Shanmugasundram reviewed gene: ALPK1: 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: 30967659, 35868845, 36332842, 38251500, 40069099; Phenotypes: ROSAH syndrome, OMIM:614979; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory disorders v2.5 TBK1 Dorota Rowczenio gene: TBK1 was added
gene: TBK1 was added to Autoinflammatory disorders. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: TBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBK1 were set to PMID: 34363755; PMID: 34210994; PMID: 28148298; PMID: 34363755
Phenotypes for gene: TBK1 were set to chronic and systemic autoinflammation driven by TNF-induced cell death
Review for gene: TBK1 was set to GREEN
Added comment: Sources: Expert list, Expert Review, Literature
Autoinflammatory disorders v2.5 TMEM173 Dorota Rowczenio commented on gene: TMEM173
Autoinflammatory disorders v2.5 RIPK1 Dorota Rowczenio gene: RIPK1 was added
gene: RIPK1 was added to Autoinflammatory disorders. Sources: Expert list,Expert Review,Literature,Research
Mode of inheritance for gene: RIPK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to PMID: 31911632; PMID: 31827281; PMID:31827280; PMID: 39557292; PMID: 37452601; PMID:35716229; PMID:35786329
Phenotypes for gene: RIPK1 were set to Autoinflammation with episodic fever and lymphadenopathy (autosomal dominant); Immunodeficiency 57 with autoinflammation (autosomal recessive)
Review for gene: RIPK1 was set to GREEN
Added comment: Sources: Expert list, Expert Review, Literature, Research
Autoinflammatory disorders v2.5 ALPK1 Dorota Rowczenio changed review comment from: Sources: Expert list; to: Sources: Expert list
Autoinflammatory disorders v2.5 RELA Dorota Rowczenio gene: RELA was added
gene: RELA was added to Autoinflammatory disorders. Sources: Expert list,Expert Review,Literature,Research
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELA were set to PMID: 36926348; PMID: 32969189; PMID: 35412596; PMID: 28600438
Phenotypes for gene: RELA were set to Autoinflammatory disease, familial, behcet-like 3
Review for gene: RELA was set to GREEN
Added comment: Sources: Expert list, Expert Review, Literature, Research
Autoinflammatory disorders v2.5 POMP Dorota Rowczenio gene: POMP was added
gene: POMP was added to Autoinflammatory disorders. Sources: Expert Review,Literature,Research,ClinGen
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043
Phenotypes for gene: POMP were set to Proteasome-associated autoinflammatory syndrome 2
Review for gene: POMP was set to GREEN
Added comment: Sources: Expert Review, Literature, Research, ClinGen
Autoinflammatory disorders v2.5 IKBKG Dorota Rowczenio reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35120036, PMID: 35289316, PMID: 20133626, PMID: 21722947, PMID: 35163099, PMID: 39264518; Phenotypes: Autoinflammatory disease, systemic, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory disorders v2.5 ELF4 Dorota Rowczenio gene: ELF4 was added
gene: ELF4 was added to Autoinflammatory disorders. Sources: Expert list,Literature
Mode of inheritance for gene: ELF4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ELF4 were set to PMID: 35266071; PMID: 34326534; PMID: 39976696; PMID: 39563044; PMID: 38773005; PMID: 38231408; PMID: 36823308
Phenotypes for gene: ELF4 were set to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
Review for gene: ELF4 was set to GREEN
Added comment: Sources: Expert list, Literature
Autoinflammatory disorders v2.5 COPA Dorota Rowczenio reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27048656, PMID: 31455335, PMID: 3976718, PMID: 34900872, PMID: 30385646, Jensson, B.O., Hansdottir, S., Arnadottir, G.A. et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA . BMC Med Genet 18, 129 (2017).; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory disorders v2.5 ALPK1 Dorota Rowczenio gene: ALPK1 was added
gene: ALPK1 was added to Autoinflammatory disorders. Sources: Expert list
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to PMID: 30967659; PMID: 36332842; PMID: 38251500; PMID: 40069099; PMID: 35868845
Phenotypes for gene: ALPK1 were set to Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache syndrome (ROSAH)
Penetrance for gene: ALPK1 were set to unknown
Review for gene: ALPK1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory disorders v2.5 COPA Arina Puzriakova Classified gene: COPA as Amber List (moderate evidence)
Autoinflammatory disorders v2.5 COPA Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Autoinflammatory disorders v2.5 COPA Arina Puzriakova Gene: copa has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.4 COPA Arina Puzriakova gene: COPA was added
gene: COPA was added to Autoinflammatory disorders. Sources: Literature
Q2_25_ promote_green tags were added to gene: COPA.
Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COPA were set to 25894502; 31455335; 38175705
Phenotypes for gene: COPA were set to {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414; COPA syndrome
Review for gene: COPA was set to GREEN
Added comment: Heterozygous variants in the COPA gene cause an autoinflammatory disorder that affects multiple organ systems. Affected individuals usually present in the first decade of life with variable features including interstitial lung disease with or without pulmonary hemorrhage, inflammatory arthritis, recurrent infections, and renal disease. Laboratory studies show evidence of systemic inflammation.

At least 9 unrelated families with more than 20 affected individuals have been reported in the literature (PMIDs: PMID: 25894502; 31455335; 38175705).

Variant hotspots include the WD40 domain and the C-terminal domain of the COPA protein.
Sources: Literature
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots changed review comment from: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other; to: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
LoF variants causes X-linked incontinentia pigmenti.
Sources: Other.
Autoinflammatory disorders v2.3 IKBKG Dmitrijs Rots gene: IKBKG was added
gene: IKBKG was added to Autoinflammatory disorders. Sources: Other
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to PMID: 35289316
Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked
Penetrance for gene: IKBKG were set to unknown
Mode of pathogenicity for gene: IKBKG was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: IKBKG was set to GREEN
Added comment: exon 5 skipping of IKBKG (NEMO) result in autoinflammatory disorder. Already in OMIM: 301081.
Sources: Other
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Classified gene: OGFRL1 as Amber List (moderate evidence)
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Rating Amber, awaiting further cases. To date, a single publication (PMID: 38699440) has reported two unrelated cherubism families with homozygous variants in this gene.
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Gene: ogfrl1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.2 OGFRL1 Arina Puzriakova Publications for gene: OGFRL1 were set to PMID: 38699440
Autoinflammatory disorders v2.1 OGFRL1 Hannah Knight gene: OGFRL1 was added
gene: OGFRL1 was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGFRL1 were set to PMID: 38699440
Phenotypes for gene: OGFRL1 were set to Cherubism
Review for gene: OGFRL1 was set to AMBER
Added comment: PMID: 38699440 (2024) identified two different homozygous LOF mutations in two unrelated families with cherubism. Functional work carried out, but inconclusive - mouse model did not recapitulate human cherubism
Sources: Literature
Autoinflammatory disorders v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2024-05-01
Autoinflammatory disorders v2.0 Eleanor Williams promoted panel to version 2.0
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Tag watchlist tag was added to gene: IL17RA.
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Classified gene: IL17RA as Amber List (moderate evidence)
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants have been found patients with immunodeficiency, presenting as chronic mucocutaneous candidiasis (PMID: 21350122).

Interleukin-17A (IL-17A) is a pro-inflammatory cytokine implicated in diverse autoimmune and inflammatory disorders such as psoriasis and Kawasaki disease so it is plausible that the interleukin-17A receptor (IL-17RA) could contribute to the same pathway.

Literature review did reveal multiple mouse models where IL-17RA was shown to promote the inflammatory response (PMID: 38060620; 30364284; 35844540; 38451335); however, there is no evidence of human cases where a variant in the IL17RA gene caused an autoinflammatory disorder. Therefore rating as Amber with a watchlist tag, awaiting further evidence.
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Gene: il17ra has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v1.16 IL17RA Arina Puzriakova Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953
Autoinflammatory disorders v1.15 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from T(-), B(-), NK(-) severe combin immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Autoinflammatory disorders v1.14 GP6 Arina Puzriakova Phenotypes for gene: GP6 were changed from Platlet-type bleeding disorder-11 to Bleeding disorder, platelet-type, 11, OMIM:614201
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Classified gene: GP6 as Red List (low evidence)
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with bleeding disorder caused by defective platelet activation and aggregation in response to collagen. Could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Gene: gp6 has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Classified gene: ADA as Red List (low evidence)
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with partial ADA deficiency or severe combined immunodeficiency (SCID) due to ADA deficiency with multiple unrelated cases reported.

Despite ADA null mice displaying severe pulmonary inflammation, could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Gene: ada has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.11 UBA1 Arina Puzriakova Publications for gene: UBA1 were set to 33108101; 33690815; 34048852; 34077651; 34196684
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: UBA1.
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Classified gene: UBA1 as Green List (high evidence)
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Added comment: Comment on list classification: Following further discussions with the GMS specialist group, it was agreed that the coverage of this test does include somatic variant detection. Therefore, the rating of this gene has been updated to green and the mode of inheritance set to "Other" following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory disorders v1.9 UBA1 Arina Puzriakova Mode of pathogenicity for gene: UBA1 was changed from to Other
Autoinflammatory disorders v1.8 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.; to: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find strong evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Classified gene: SEC23B as Red List (low evidence)
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Gene: sec23b has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.6 PRF1 Arina Puzriakova Publications for gene: PRF1 were set to 32098966
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Classified gene: PRF1 as Amber List (moderate evidence)
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with
Hemophagocytic Lymphohistiocytosis (HLH) with multiple unrelated cases reported. This is a hyperinflammatory disorder which leads to to impaired function of cytotoxic T cells and NK cells, consistent with a defect in cellular cytotoxicity. Acquired HLH can be caused by autoinflammatory and autoimmune diseases; however, familial HLH caused by biallelic variants in this gene do not necessarily cause autoinflammation.

For this reason, rating this gene:disease association as amber on this panel. Cases should be picked up via the 'R15 Primary immunodeficiency or monogenic inflammatory bowel disease' panel, where it is already green.
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Gene: prf1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v1.4 PRF1 Arina Puzriakova Phenotypes for gene: PRF1 were changed from Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553) to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Autoinflammatory disorders v1.1 UBA1 Dorota Rowczenio reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33108101, 36823397, 34048852, 34213531, 34340250, 33930131, 34802547, 37501758, 37223371, 36692560, 33789873, 33779074; Phenotypes: ever, chondritis, vasculitis, neutrophilic dermatosis, sterile alveolitis, progressive bone marrow failure, cytopenia; Mode of inheritance: Other; Current diagnostic: yes
Autoinflammatory disorders v1.1 SEC23B Lauma Freimane gene: SEC23B was added
gene: SEC23B was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 32098966
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II
Review for gene: SEC23B was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 PRF1 Lauma Freimane gene: PRF1 was added
gene: PRF1 was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 32098966
Phenotypes for gene: PRF1 were set to Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553)
Autoinflammatory disorders v1.1 GP6 Lauma Freimane gene: GP6 was added
gene: GP6 was added to Autoinflammatory disorders. Sources: Expert Review,Literature
Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP6 were set to 32098966
Phenotypes for gene: GP6 were set to Platlet-type bleeding disorder-11
Review for gene: GP6 was set to GREEN
Added comment: Sources: Expert Review, Literature
Autoinflammatory disorders v1.1 IL17RA Lauma Freimane gene: IL17RA was added
gene: IL17RA was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL17RA were set to 32098966
Phenotypes for gene: IL17RA were set to Immunodeficiency-51
Review for gene: IL17RA was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 ADA Lauma Freimane gene: ADA was added
gene: ADA was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 32098966
Phenotypes for gene: ADA were set to T(-), B(-), NK(-) severe combin immunodeficiency
Review for gene: ADA was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-11-30
Autoinflammatory disorders v1.0 Catherine Snow promoted panel to version 1.0
Autoinflammatory disorders v0.37 Eleanor Williams Panel status changed from internal to public
Autoinflammatory disorders v0.36 PSMB8 Arina Puzriakova Tag digenic tag was added to gene: PSMB8.
Autoinflammatory disorders v0.36 PSMB9 Arina Puzriakova Tag digenic tag was added to gene: PSMB9.
Autoinflammatory disorders v0.36 ADA2 Arina Puzriakova reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 CARD14 Arina Puzriakova reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TNFAIP3 Arina Puzriakova reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TMEM173 Arina Puzriakova reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TNFRSF1A Arina Puzriakova reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 SLC29A3 Arina Puzriakova reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 SH3BP2 Arina Puzriakova edited their review of gene: SH3BP2: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 RBCK1 Arina Puzriakova reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSTPIP1 Arina Puzriakova reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSMB9 Arina Puzriakova edited their review of gene: PSMB9: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 PSMB8 Arina Puzriakova reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSMB4 Arina Puzriakova edited their review of gene: PSMB4: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 PLCG2 Arina Puzriakova reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 OTULIN Arina Puzriakova reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NOD2 Arina Puzriakova reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRP3 Arina Puzriakova reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRP12 Arina Puzriakova reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRC4 Arina Puzriakova reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 MVK Arina Puzriakova reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 MEFV Arina Puzriakova reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 LPIN2 Arina Puzriakova reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 IL36RN Arina Puzriakova reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 IL1RN Arina Puzriakova reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.35 SH3BP2 Arina Puzriakova Classified gene: SH3BP2 as Green List (high evidence)
Autoinflammatory disorders v0.35 SH3BP2 Arina Puzriakova Gene: sh3bp2 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.34 PSMB9 Arina Puzriakova Classified gene: PSMB9 as Green List (high evidence)
Autoinflammatory disorders v0.34 PSMB9 Arina Puzriakova Gene: psmb9 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.33 PSMB4 Arina Puzriakova Classified gene: PSMB4 as Green List (high evidence)
Autoinflammatory disorders v0.33 PSMB4 Arina Puzriakova Gene: psmb4 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova commented on gene: UBA1: Added 'to_be_confirmed_NHSE' tag - gene to be further discussed due to somatic pathogenesis
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: UBA1.
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova Source NHS GMS was added to UBA1.
Autoinflammatory disorders v0.31 SH3BP2 Arina Puzriakova Source NHS GMS was added to SH3BP2.
Autoinflammatory disorders v0.30 PSMB9 Arina Puzriakova Source NHS GMS was added to PSMB9.
Autoinflammatory disorders v0.29 PSMB4 Arina Puzriakova Source NHS GMS was added to PSMB4.
Autoinflammatory disorders v0.28 TNFRSF1A Arina Puzriakova Source NHS GMS was added to TNFRSF1A.
Autoinflammatory disorders v0.27 TNFAIP3 Arina Puzriakova Source NHS GMS was added to TNFAIP3.
Autoinflammatory disorders v0.26 TMEM173 Arina Puzriakova Source NHS GMS was added to TMEM173.
Autoinflammatory disorders v0.25 SLC29A3 Arina Puzriakova Source NHS GMS was added to SLC29A3.
Autoinflammatory disorders v0.24 RBCK1 Arina Puzriakova Source NHS GMS was added to RBCK1.
Autoinflammatory disorders v0.23 PSTPIP1 Arina Puzriakova Source NHS GMS was added to PSTPIP1.
Autoinflammatory disorders v0.22 PSMB8 Arina Puzriakova Source NHS GMS was added to PSMB8.
Autoinflammatory disorders v0.21 PLCG2 Arina Puzriakova Source NHS GMS was added to PLCG2.
Autoinflammatory disorders v0.20 OTULIN Arina Puzriakova Source NHS GMS was added to OTULIN.
Autoinflammatory disorders v0.19 NOD2 Arina Puzriakova Source NHS GMS was added to NOD2.
Autoinflammatory disorders v0.18 NLRP3 Arina Puzriakova Source NHS GMS was added to NLRP3.
Autoinflammatory disorders v0.17 NLRP12 Arina Puzriakova Source NHS GMS was added to NLRP12.
Autoinflammatory disorders v0.16 NLRC4 Arina Puzriakova Source NHS GMS was added to NLRC4.
Autoinflammatory disorders v0.15 MVK Arina Puzriakova Source NHS GMS was added to MVK.
Autoinflammatory disorders v0.14 MEFV Arina Puzriakova Source NHS GMS was added to MEFV.
Autoinflammatory disorders v0.13 LPIN2 Arina Puzriakova Source NHS GMS was added to LPIN2.
Autoinflammatory disorders v0.12 IL36RN Arina Puzriakova Source NHS GMS was added to IL36RN.
Autoinflammatory disorders v0.11 IL1RN Arina Puzriakova Source NHS GMS was added to IL1RN.
Autoinflammatory disorders v0.10 CARD14 Arina Puzriakova Source NHS GMS was added to CARD14.
Autoinflammatory disorders v0.9 ADA2 Arina Puzriakova Source NHS GMS was added to ADA2.
Autoinflammatory disorders v0.8 UBA1 Arina Puzriakova Publications for gene: UBA1 were set to 34048852; 33108101
Autoinflammatory disorders v0.7 UBA1 Arina Puzriakova reviewed gene: UBA1: Rating: ; Mode of pathogenicity: None; Publications: 33108101, 33690815, 34048852, 34077651, 34196684; Phenotypes: VEXAS syndrome, somatic, OMIM:301054; Mode of inheritance: None
Autoinflammatory disorders v0.7 UBA1 Arina Puzriakova Tag somatic tag was added to gene: UBA1.
Autoinflammatory disorders v0.7 SH3BP2 Arina Puzriakova Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448
Autoinflammatory disorders v0.6 SH3BP2 Arina Puzriakova reviewed gene: SH3BP2: Rating: ; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465, 32825821; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.6 PSMB9 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as all cases reported to date have harboured heterozygous variants in this gene (PMID: 26524591; 33727065; 34819510)
Autoinflammatory disorders v0.6 PSMB9 Arina Puzriakova Mode of inheritance for gene: PSMB9 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.5 PSMB9 Arina Puzriakova Publications for gene: PSMB9 were set to 26524591; 33727065
Autoinflammatory disorders v0.4 PSMB9 Arina Puzriakova reviewed gene: PSMB9: Rating: ; Mode of pathogenicity: None; Publications: 26524591, 33727065, 34819510; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.4 PSMB4 Arina Puzriakova reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: None; Publications: 34416217, 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v0.4 PSMB4 Arina Puzriakova Tag digenic tag was added to gene: PSMB4.
Autoinflammatory disorders v0.4 TMEM173 Arina Puzriakova Tag new-gene-name tag was added to gene: TMEM173.
Autoinflammatory disorders v0.4 Arina Puzriakova List of related panels changed from to R413
Autoinflammatory disorders v0.3 ADA2 Arina Puzriakova gene: ADA2 was added
gene: ADA2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 24552285; 29564582; 27059682; 24552284; 26922074; 27444081
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Autoinflammatory disorders v0.3 CARD14 Arina Puzriakova gene: CARD14 was added
gene: CARD14 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CARD14 were set to 29980436; 22521418; 22703878; 29704870; 23648549; 23067081; 29689250; 23711932; 30248356
Phenotypes for gene: CARD14 were set to Psoriasis 2, OMIM:602723; Pityriasis rubra pilaris, OMIM:173200
Autoinflammatory disorders v0.3 UBA1 Arina Puzriakova gene: UBA1 was added
gene: UBA1 was added to Autoinflammatory disorders. Sources: Expert Review Red
Mode of inheritance for gene: UBA1 was set to Other
Publications for gene: UBA1 were set to 34048852; 33108101
Phenotypes for gene: UBA1 were set to VEXAS syndrome, somatic, OMIM:301054
Autoinflammatory disorders v0.3 TNFAIP3 Arina Puzriakova gene: TNFAIP3 was added
gene: TNFAIP3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFAIP3 were set to 29317407; 29572183; 27845235; 28659290; 31164164; 26642243
Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
Autoinflammatory disorders v0.3 TMEM173 Arina Puzriakova gene: TMEM173 was added
gene: TMEM173 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM173 were set to 25401470; 29491158; 29425920; 30705050; 25029335; 29976662
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, OMIM:615934
Autoinflammatory disorders v0.3 TNFRSF1A Arina Puzriakova gene: TNFRSF1A was added
gene: TNFRSF1A was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF1A were set to 10199409; 10902757; 23965844; 12209523; 17360963; 11175303; 11115159
Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial, OMIM:142680
Autoinflammatory disorders v0.3 SLC29A3 Arina Puzriakova gene: SLC29A3 was added
gene: SLC29A3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 22238637; 18940313; 20619369; 20140240; 19336477; 16650224; 23530176; 22653152; 16118898; 22875837; 21888995; 19175903; 21178579
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Autoinflammatory disorders v0.3 SH3BP2 Arina Puzriakova gene: SH3BP2 was added
gene: SH3BP2 was added to Autoinflammatory disorders. Sources: Expert Review Red
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448
Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400
Autoinflammatory disorders v0.3 RBCK1 Arina Puzriakova gene: RBCK1 was added
gene: RBCK1 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23798481; 610924; 23104095; 29260357
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Autoinflammatory disorders v0.3 PSTPIP1 Arina Puzriakova gene: PSTPIP1 was added
gene: PSTPIP1 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSTPIP1 were set to 29575118; 28960754; 28251506; 26025129; 9212761; 21532836; 28628471; 22161697
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Autoinflammatory disorders v0.3 PSMB9 Arina Puzriakova gene: PSMB9 was added
gene: PSMB9 was added to Autoinflammatory disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PSMB9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB9 were set to 26524591; 33727065
Phenotypes for gene: PSMB9 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Autoinflammatory disorders v0.3 PSMB8 Arina Puzriakova gene: PSMB8 was added
gene: PSMB8 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB8 were set to 21852578; 21953331; 20534754; 20159315; 21881205; 21129723
Phenotypes for gene: PSMB8 were set to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Autoinflammatory disorders v0.3 PSMB4 Arina Puzriakova gene: PSMB4 was added
gene: PSMB4 was added to Autoinflammatory disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB4 were set to 34416217; 26524591
Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Autoinflammatory disorders v0.3 PLCG2 Arina Puzriakova gene: PLCG2 was added
gene: PLCG2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLCG2 were set to 29538758; 22236196; 23000145; 25760457
Phenotypes for gene: PLCG2 were set to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468
Autoinflammatory disorders v0.3 OTULIN Arina Puzriakova gene: OTULIN was added
gene: OTULIN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27559085; 27523608
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Autoinflammatory disorders v0.3 NOD2 Arina Puzriakova gene: NOD2 was added
gene: NOD2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOD2 were set to 11385576; 25136265; 19479837; 25416713; 21914217; 26070941
Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; Blau syndrome, OMIM:186580; {Yao syndrome}, OMIM:617321
Autoinflammatory disorders v0.3 NLRP3 Arina Puzriakova gene: NLRP3 was added
gene: NLRP3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRP3 were set to 11687797; 18423104; 11992256; 14872505; 29366613; 11590390; 12032915; 12522564; 28847925
Phenotypes for gene: NLRP3 were set to Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900; CINCA syndrome, OMIM:607115
Autoinflammatory disorders v0.3 NLRP12 Arina Puzriakova gene: NLRP12 was added
gene: NLRP12 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRP12 were set to 21360512; 27779193; 27633793; 29178652; 18230725; 29248470
Phenotypes for gene: NLRP12 were set to Familial cold autoinflammatory syndrome 2, OMIM:611762
Autoinflammatory disorders v0.3 NLRC4 Arina Puzriakova gene: NLRC4 was added
gene: NLRC4 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRC4 were set to 27876626; 25217959; 25385754; 25217960
Phenotypes for gene: NLRC4 were set to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Autoinflammatory disorders v0.3 MVK Arina Puzriakova gene: MVK was added
gene: MVK was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 21708801; 16435210; 22038276; 10369261; 19011501
Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377; Hyper-IgD syndrome, OMIM:260920
Autoinflammatory disorders v0.3 MEFV Arina Puzriakova gene: MEFV was added
gene: MEFV was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MEFV were set to 27030597; 9288094; 28835462; 14679589; 9288758; 10787449
Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068; Familial Mediterranean fever, AD, OMIM:134610
Autoinflammatory disorders v0.3 LPIN2 Arina Puzriakova gene: LPIN2 was added
gene: LPIN2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 17330256; 27860302; 15994876; 29387759
Phenotypes for gene: LPIN2 were set to Majeed syndrome, OMIM:609628
Autoinflammatory disorders v0.3 IL36RN Arina Puzriakova gene: IL36RN was added
gene: IL36RN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL36RN were set to 23698098; 21839423; 21848462; 23303454; 22903787
Phenotypes for gene: IL36RN were set to Psoriasis 14, pustular, OMIM:614204
Autoinflammatory disorders v0.3 IL1RN Arina Puzriakova gene: IL1RN was added
gene: IL1RN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 22127713; 19494219; 19494218
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Autoinflammatory disorders v0.0 Arina Puzriakova Added Panel Autoinflammatory disorders
Set panel types to: GMS Rare Disease