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Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on mode of inheritance: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous, which would warrant an MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. However, their heterozygous parents were found to be unaffected carriers. Hence, an expert-review tag was added to this entry, to get wider NHSE opinion on the correct MOI, considering the technical limitations of WGS.; to: Comment on mode of inheritance: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. This could warrant an MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal, if there is a downstream clinical pathway to detect the somatic second hit. However, the heterozygous parents were found to be unaffected carriers. Hence, an expert-review tag was added to this entry, to get wider NHSE opinion on the correct MOI, considering the technical limitations of WGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on phenotypes: OMIM phenotype updated 25th Sept 2026.; to: Comment on phenotypes: OMIM phenotype updated 25th Sept 2026.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous, which would warrant an MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. However, their heterozygous parents were found to be unaffected carriers. Hence, an expert-review tag was added to this entry, to get wider NHSE opinion on the correct MOI, considering the technical limitations of WGS.; to: Comment on mode of inheritance: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous, which would warrant an MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. However, their heterozygous parents were found to be unaffected carriers. Hence, an expert-review tag was added to this entry, to get wider NHSE opinion on the correct MOI, considering the technical limitations of WGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on phenotypes: OMIM phenotype updated 25th Sept 2026.; to: Comment on phenotypes: OMIM phenotype updated 25th Sept 2026.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.; to: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous, which would warrant an MOI change to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. However, their heterozygous parents were found to be unaffected carriers. Hence, an expert-review tag was added to this entry, to get wider NHSE opinion on the correct MOI, considering the technical limitations of WGS.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska edited their review of gene: FADD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: FADD.
Tag Q3_26_MOI tag was added to gene: FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska Tag technical-limitations tag was added to gene: FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant in trans. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.; to: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant in trans. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.; to: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant in trans. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska edited their review of gene: FADD: Added comment: Comment on list classification: As reviewed by Nicole Gossan, there are three unrelated patients reported in PMID:37793571 that harboured a FADD missense variant R117H, alongside a somatic variant in trans. Unfortunately, due to technical limitations, the described somatic mutation is currently unlikely to be detected by WGS, and these patients would appear to be heterozygous. However, their heterozygous parents were found to be unaffected. Hence, the MOI should remain BIALLELIC, autosomal or pseudoautosomal, so that variants are not tiered in unaffected carriers.; Changed rating: GREEN; Changed publications to: 18070632, 25794656, 21109225, 37793571; Changed phenotypes to: Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction, OMIM:613759, FADD-related immunodeficiency, MONDO:0013408; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 25th Sept 2026.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.107 FADD Ida Ertmanska Phenotypes for gene: FADD were changed from Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759; ALPS-like disease; functional hyposplenism; invasive pneumococcal disease; para-infectious encephalopathy and hepatopathy; cardiovascular malformations; Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction; Diseases of Immune Dysregulation to Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction, OMIM:613759; FADD-related immunodeficiency, MONDO:0013408
Primary immunodeficiency or monogenic inflammatory bowel disease v9.106 FADD Ida Ertmanska Publications for gene: FADD were set to 18070632; 17656375; 25794656; 21109225
Primary immunodeficiency or monogenic inflammatory bowel disease v8.93 FADD Nicole Gossan changed review comment from: R117H identified in a heterozygous state in three unrelated patients. Described as a dominant susceptibility variant, shown to cause ALPS in combination with somatic UPD in DN T-cells - Inherited from heterozygous healthy parent in 2/3 cases. Third case parents not tested (PMID: 37793571).; to: R117H identified in a heterozygous state in three unrelated patients. Described as a dominant susceptibility variant, shown to cause ALPS in combination with somatic UPD in DN T-cells - Inherited from heterozygous healthy parent in 2/3 cases. Third case parents not tested (PMID: 37793571).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.93 FADD Nicole Gossan reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37793571; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Classified gene: FADD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.248 FADD Eleanor Williams Gene: fadd has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FADD Eleanor Williams Source Other was added to FADD.
Publications for gene FADD were updated from 21109225; 17656375; 25794656 to 18070632; 17656375; 25794656; 21109225
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FADD Eleanor Williams reviewed gene: FADD: Rating: ; Mode of pathogenicity: ; Publications: 18070632, 25794656, 21109225; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Louise Daugherty commented on gene: FADD: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Louise Daugherty commented on gene: FADD: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Kimberly Gilmour reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FADD Tracy Briggs reviewed gene: FADD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FADD Louise Daugherty Source NHS GMS was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FADD Louise Daugherty Source North West GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FADD Louise Daugherty Source London North GLH was added to FADD.
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty edited their review of gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty marked gene: FADD as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty classified FADD as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Sophie Hambleton reviewed gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty commented on gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty commented on gene: FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty commented on FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty commented on FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty commented on FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty reviewed FADD
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease FADD Louise Daugherty Added gene to panel