Activity

Filter

Cancel
Date Panel Item Activity
18 actions
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 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 v2.33 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 v2.14 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 v2.5 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