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Primary immunodeficiency or monogenic inflammatory bowel disease v8.66 ELF4 Arina Puzriakova Tag Q2_25_expert_review was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 ELF4 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous ELF4 variants and autoinflammatory disorder, the MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next GMS update.; to: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous ELF4 variants and autoinflammatory disorder, the MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next GMS update.

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.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 ELF4 Achchuthan Shanmugasundram Tag Skewed X-inactivation tag was added to gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 ELF4 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As there are three unrelated female patients reported with heterozygous ELF4 variants and autoinflammatory disorder, the MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.14 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, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v8.13 ELF4 Achchuthan Shanmugasundram Phenotypes for gene: ELF4 were changed from Inflammatory bowel disease; Mucosal inflammation; Fever; Ulcers; Behcet-like disease; X-linked hypogammaglobulinemia with isolated growth hormone deficiency to Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074
Primary immunodeficiency or monogenic inflammatory bowel disease v8.12 ELF4 Achchuthan Shanmugasundram Publications for gene: ELF4 were set to 16264330; 34326534
Primary immunodeficiency or monogenic inflammatory bowel disease v8.11 ELF4 Achchuthan Shanmugasundram Tag Q2_25_ MOI tag was added to gene: ELF4.
Tag Q2_25_expert_review tag was added to gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.11 ELF4 Achchuthan Shanmugasundram reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34326534, 35266071, 36823308, 38231408, 38773005, 39563044, 39976696; Phenotypes: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova Tag Q3_21_rating was removed from gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 ELF4 Arina Puzriakova commented on gene: ELF4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 ELF4 Arina Puzriakova Source Expert Review Green was added to ELF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 ELF4 Arina Puzriakova Phenotypes for gene: ELF4 were changed from X-linked hypogammaglobulinemia with isolated growth hormone deficiency to Inflammatory bowel disease; Mucosal inflammation; Fever; Ulcers; Behcet-like disease; X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Classified gene: ELF4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is enough evidence to rate this gene as Green at the next GMS panel update. At least two variants identified in three unrelated individuals with autoinflammatory disease characterised by fever, oral ulcers and mucosal inflammation. Supported by functional studies and mouse model.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.461 ELF4 Arina Puzriakova Gene: elf4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.460 ELF4 Arina Puzriakova Tag Q3_21_rating tag was added to gene: ELF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.460 ELF4 Arina Puzriakova Publications for gene: ELF4 were set to 16264330
Primary immunodeficiency or monogenic inflammatory bowel disease v2.459 ELF4 Arina Puzriakova Mode of inheritance for gene: ELF4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 ELF4 Dmitrijs Rots reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34326534; Phenotypes: Ulcers, fever, inflammatory bowel disease, autoinflammatory condition; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 ELF4 Boaz Palterer reviewed gene: ELF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease, IBD, mucosal inflammation, fever, ulcers, Behcet-like disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease ELF4 Louise Daugherty Added gene to panel