Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Severe Paediatric Disorders v1.86 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Severe Paediatric Disorders v1.78 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
Severe Paediatric Disorders v1.20 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Severe Paediatric Disorders v0.12 XPA Louise Daugherty reviewed gene: XPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 XPA Louise Daugherty Publications for gene XPA were updated from to 30847515
Severe Paediatric Disorders v0.10 XPA Louise Daugherty Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.10 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.10 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.10 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.9 XPA Louise Daugherty Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.9 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.9 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.9 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.9 XPA Louise Daugherty Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.9 TNFRSF11A Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.9 RAG1 Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
Severe Paediatric Disorders v0.9 CARD11 Louise Daugherty Added phenotypes B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11A, 615206; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.8 XPA Louise Daugherty Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.8 TNFRSF11A Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 7, 612301; Osteolysis, familial expansile, 174810 for gene: TNFRSF11A
Severe Paediatric Disorders v0.8 RAG1 Louise Daugherty Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554; Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 for gene: RAG1
Severe Paediatric Disorders v0.8 CARD11 Louise Daugherty Added phenotypes Immunodeficiency 11A, 615206; B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11B with atopic dermatitis, 617638 for gene: CARD11
Severe Paediatric Disorders v0.8 XPA Louise Daugherty Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Severe Paediatric Disorders v0.8 TNFRSF11A Louise Daugherty Mode of inheritance for gene TNFRSF11A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
Severe Paediatric Disorders v0.7 XPA Louise Daugherty Source Next Generation Children Project was added to XPA.
Severe Paediatric Disorders v0.5 XPA Louise Daugherty Source Expert Review Green was added to XPA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 XPA Louise Daugherty gene: XPA was added
gene: XPA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: XPA was set to