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Severe Combined Immunodeficiency v1.27 Bryony Thompson Panel name changed from Severe Combined Immunodeficiency (absent T present B cells) to Severe Combined Immunodeficiency
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Severe Combined Immunodeficiency v1.26 Bryony Thompson Copied gene PSMB10 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.26 PSMB10 Bryony Thompson gene: PSMB10 was added
gene: PSMB10 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Red,Literature
Mode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMB10 were set to 38503300
Phenotypes for gene: PSMB10 were set to Severe combined immunodeficiency, MONDO:0015974, PSMB10-related
Severe Combined Immunodeficiency v1.25 Bryony Thompson Copied gene LCP2 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.25 LCP2 Bryony Thompson gene: LCP2 was added
gene: LCP2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Amber,Literature
Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCP2 were set to 33231617
Phenotypes for gene: LCP2 were set to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency
Severe Combined Immunodeficiency v1.24 Bryony Thompson Copied gene RAG2 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.24 RAG2 Bryony Thompson gene: RAG2 was added
gene: RAG2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAG2 were set to 26996199
Phenotypes for gene: RAG2 were set to Recombinase activating gene 2 deficiency MONDO:0000573
Severe Combined Immunodeficiency v1.23 Bryony Thompson Copied gene RAG1 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.23 RAG1 Bryony Thompson gene: RAG1 was added
gene: RAG1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAG1 were set to 26689875; 26186701
Phenotypes for gene: RAG1 were set to Recombinase activating gene 1 deficiency MONDO:0000572
Severe Combined Immunodeficiency v1.22 Bryony Thompson Copied gene RAC2 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.22 RAC2 Bryony Thompson gene: RAC2 was added
gene: RAC2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050
Phenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness
Mode of pathogenicity for gene: RAC2 was set to Other
Severe Combined Immunodeficiency v1.21 Bryony Thompson Copied gene PRKDC from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.21 PRKDC Bryony Thompson gene: PRKDC was added
gene: PRKDC was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKDC were set to 19075392; 23722905
Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Absent T and B cells; normal NK cells; SCID; recurrent respiratory infections; microcephaly; seizures; developmental delay
Severe Combined Immunodeficiency v1.20 Bryony Thompson Copied gene NUDCD3 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.20 NUDCD3 Bryony Thompson gene: NUDCD3 was added
gene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Literature
Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD3 were set to PMID: 38787962
Phenotypes for gene: NUDCD3 were set to Severe combined immunodeficiency; omenn syndrome
Severe Combined Immunodeficiency v1.19 Bryony Thompson Copied gene NHEJ1 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.19 NHEJ1 Bryony Thompson gene: NHEJ1 was added
gene: NHEJ1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHEJ1 were set to 16439204; 16439205
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Severe Combined Immunodeficiency v1.18 Bryony Thompson Copied gene LIG4 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.18 LIG4 Bryony Thompson gene: LIG4 was added
gene: LIG4 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
treatable tags were added to gene: LIG4.
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 27717373; 10911993
Phenotypes for gene: LIG4 were set to LIG4 syndrome MIM# 606593; T-/B-lymphocytopaenia; Normal NK, radiation sensitivity; Microcephaly; absent/low B and T cells; low Ig; raised IgM; failure to thrive; bacterial/viral/fungal infections; hypogammaglobulinaemia; neurodevelopmental delay; microcephaly; pancytopaenia
Severe Combined Immunodeficiency v1.17 Bryony Thompson Copied gene LIG1 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.17 LIG1 Bryony Thompson gene: LIG1 was added
gene: LIG1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Literature
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to PMID: 33025376; PMID: 36341401
Phenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM# 619774
Severe Combined Immunodeficiency v1.16 Bryony Thompson Copied gene DCLRE1C from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.16 DCLRE1C Bryony Thompson gene: DCLRE1C was added
gene: DCLRE1C was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCLRE1C were set to 12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225
Severe Combined Immunodeficiency v1.15 Bryony Thompson Copied gene AK2 from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.15 AK2 Bryony Thompson gene: AK2 was added
gene: AK2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
treatable tags were added to gene: AK2.
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416; 33628209
Phenotypes for gene: AK2 were set to Reticular dysgenesis MIM# 267500; MONDO:0009973; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness
Severe Combined Immunodeficiency v1.14 Bryony Thompson Copied gene ADA from panel Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency v1.14 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert Review Green,Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 3007108; 3475710; 8178821; 8227344; 2783588
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Severe Combined Immunodeficiency v1.13 DMRT2 Krithika Murali Classified gene: DMRT2 as Amber List (moderate evidence)
Severe Combined Immunodeficiency v1.13 DMRT2 Krithika Murali Gene: dmrt2 has been classified as Amber List (Moderate Evidence).
Severe Combined Immunodeficiency v1.12 DMRT2 Krithika Murali Marked gene: DMRT2 as ready
Severe Combined Immunodeficiency v1.12 DMRT2 Krithika Murali Gene: dmrt2 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v1.12 DMRT2 Krithika Murali gene: DMRT2 was added
gene: DMRT2 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: DMRT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMRT2 were set to PMID: 41014130; 29681102; 16387292
Phenotypes for gene: DMRT2 were set to skeletal dysplasia MONDO:0018230; DMRT2-related
Review for gene: DMRT2 was set to AMBER
Added comment: Severe skeletal manifestations is the overlapping feature between the 2 unrelated patients reported and the mouse model. PMID: 41014130 report one of the patients also had absence of TRECs suggestive of SCID on NBS wtih thymic aplasia. Laboratory tests showed profound lyphopenia, near absence of CD3+ T cells, low CD8+ and CD4+ T cells, expansion of B-cells and NK cells with elevation of several immunoglobulins. Patient developed severe CMV pneumonitis and bacterial infections leading to death at 3 months of age.

Have included as Amber rather than Red for immunodeficiency given the rarity of cases overall for this skeletal dysplasia.
Sources: Literature
Severe Combined Immunodeficiency v1.11 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia to TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Severe Combined Immunodeficiency v1.10 TP63 Zornitza Stark edited their review of gene: TP63: Changed phenotypes: TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Severe Combined Immunodeficiency v1.10 POLD3 Zornitza Stark Classified gene: POLD3 as Amber List (moderate evidence)
Severe Combined Immunodeficiency v1.10 POLD3 Zornitza Stark Gene: pold3 has been classified as Amber List (Moderate Evidence).
Severe Combined Immunodeficiency v1.9 POLD3 Zornitza Stark edited their review of gene: POLD3: Added comment: Downgraded from MODERATE to LIMITED by ClinGen expert review.; Changed rating: AMBER
Severe Combined Immunodeficiency v1.9 TP63 Zornitza Stark Marked gene: TP63 as ready
Severe Combined Immunodeficiency v1.9 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v1.9 TP63 Zornitza Stark Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia
Severe Combined Immunodeficiency v1.8 TP63 Zornitza Stark Classified gene: TP63 as Green List (high evidence)
Severe Combined Immunodeficiency v1.8 TP63 Zornitza Stark Gene: tp63 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v1.7 TP63 Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 39364398; Phenotypes: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe Combined Immunodeficiency v1.7 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from severe combined immunodeficiency 104 MIM#608971 to severe combined immunodeficiency 104 MIM#608971
Severe Combined Immunodeficiency v1.7 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins to severe combined immunodeficiency 104 MIM#608971
Severe Combined Immunodeficiency v1.6 TP63 Peter McNaughton gene: TP63 was added
gene: TP63 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP63 were set to doi: 10.3389/fimmu.2024.1438383
Phenotypes for gene: TP63 were set to lymphopaenia
Review for gene: TP63 was set to GREEN
Added comment: Multiple patients presenting with T cell lymphopaenia, potentially identified on SCID new born screening. T cell lymphopaenia due to thymic defect rather than intrinsic T cell defect so treatment is with thymic transplant rather than HSCT. Should be included in SCID panel as identification of this gene defect in lymphopaenic patients identified on SCID NBS will change treatment pathway dramatically.
Sources: Literature
Severe Combined Immunodeficiency v1.6 POLD3 Zornitza Stark Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency MONDO:0015974 to Immunodeficiency 122, MIM# 620869
Severe Combined Immunodeficiency v1.5 POLD3 Zornitza Stark Publications for gene: POLD3 were set to 37030525; 36395985; 27524497
Severe Combined Immunodeficiency v1.4 POLD3 Zornitza Stark Classified gene: POLD3 as Green List (high evidence)
Severe Combined Immunodeficiency v1.4 POLD3 Zornitza Stark Gene: pold3 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v1.3 POLD3 Zornitza Stark reviewed gene: POLD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38099988; Phenotypes: Immunodeficiency 122, MIM# 620869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v1.3 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Severe Combined Immunodeficiency v1.3 POLD3 Bryony Thompson Marked gene: POLD3 as ready
Severe Combined Immunodeficiency v1.3 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Severe Combined Immunodeficiency v1.3 POLD3 Bryony Thompson Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency to Severe combined immunodeficiency MONDO:0015974
Severe Combined Immunodeficiency v1.2 POLD3 Bryony Thompson Publications for gene: POLD3 were set to PMID: 37030525
Severe Combined Immunodeficiency v1.2 POLD3 Bryony Thompson Classified gene: POLD3 as Amber List (moderate evidence)
Severe Combined Immunodeficiency v1.2 POLD3 Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence).
Severe Combined Immunodeficiency v1.1 POLD3 Peter McNaughton gene: POLD3 was added
gene: POLD3 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLD3 were set to PMID: 37030525
Phenotypes for gene: POLD3 were set to Severe combined immunodeficiency
Review for gene: POLD3 was set to AMBER
Added comment: Homozygous mutation in POLD3 (NM_006591.3: c.29T>C; p.Ile10Thr) in the offspring of a consanguineous Lebanese family with syndromic T -B +NK- SCID, including neurodevelopmental delay and profound hearing loss.
Sources: Literature
Severe Combined Immunodeficiency v1.1 Zornitza Stark HPO terms changed from to Severe combined immunodeficiency, HP:0004430
List of related panels changed from to Severe combined immunodeficiency; HP:0004430
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Severe Combined Immunodeficiency v1.0 JAK3 Zornitza Stark Tag treatable tag was added to gene: JAK3.
Severe Combined Immunodeficiency v1.0 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Severe Combined Immunodeficiency v1.0 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Severe Combined Immunodeficiency v1.0 FOXN1 Bryony Thompson Deleted their comment
Severe Combined Immunodeficiency v1.0 Zornitza Stark promoted panel to version 1.0
Severe Combined Immunodeficiency v0.46 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Severe Combined Immunodeficiency v0.46 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.46 PTPRC Zornitza Stark Phenotypes for gene: PTPRC were changed from to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532
Severe Combined Immunodeficiency v0.45 PTPRC Zornitza Stark Publications for gene: PTPRC were set to
Severe Combined Immunodeficiency v0.44 PTPRC Zornitza Stark Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.43 JAK3 Zornitza Stark Marked gene: JAK3 as ready
Severe Combined Immunodeficiency v0.43 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.43 JAK3 Zornitza Stark Phenotypes for gene: JAK3 were changed from to SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Severe Combined Immunodeficiency v0.42 JAK3 Zornitza Stark Publications for gene: JAK3 were set to
Severe Combined Immunodeficiency v0.41 JAK3 Zornitza Stark Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.40 IL7R Zornitza Stark Marked gene: IL7R as ready
Severe Combined Immunodeficiency v0.40 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.40 IL7R Zornitza Stark Phenotypes for gene: IL7R were changed from to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins
Severe Combined Immunodeficiency v0.39 IL7R Zornitza Stark Publications for gene: IL7R were set to
Severe Combined Immunodeficiency v0.38 IL7R Zornitza Stark Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.37 CORO1A Zornitza Stark Marked gene: CORO1A as ready
Severe Combined Immunodeficiency v0.37 CORO1A Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.37 CORO1A Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM# 615401
Severe Combined Immunodeficiency v0.36 CORO1A Zornitza Stark Publications for gene: CORO1A were set to
Severe Combined Immunodeficiency v0.35 CORO1A Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.34 PTPRC Danielle Ariti reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11145714, 12073144, 22689986, 10700239; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971, Hepatitis C virus, susceptibility to MIM# 609532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.34 JAK3 Danielle Ariti reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376, 11668610; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.34 CORO1A Danielle Ariti reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25073507, 2352248, 18836449; Phenotypes: Immunodeficiency 8 MIM# 615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.34 CD3E Zornitza Stark Marked gene: CD3E as ready
Severe Combined Immunodeficiency v0.34 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.34 CD3E Zornitza Stark Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615
Severe Combined Immunodeficiency v0.33 CD3E Zornitza Stark Publications for gene: CD3E were set to
Severe Combined Immunodeficiency v0.32 CD3E Zornitza Stark Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.31 CD3D Zornitza Stark Marked gene: CD3D as ready
Severe Combined Immunodeficiency v0.31 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.31 CD3D Zornitza Stark Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617
Severe Combined Immunodeficiency v0.30 CD3D Zornitza Stark Publications for gene: CD3D were set to
Severe Combined Immunodeficiency v0.29 CD3D Zornitza Stark Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.28 CD3E Danielle Ariti reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: 15546002, 28597365, 8490660; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.28 CD3D Danielle Ariti reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14602880, 15546002, 21926461, 21883749; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.28 IL7R Danielle Ariti reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843216, 19890784, 26123418, 11023514, 7964471; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971, low T-cell numbers, normal-high B and NK-cell numbers, fever, rash, failure to thrive, recurrent respiratory and gastric infections, Hepatomegaly, Splenomegaly, diarrhoea, lymphadenopathy, pneumonitis, Pancytopaenia, decreased immunoglobulins; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.28 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Severe Combined Immunodeficiency v0.28 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.28 IL2RG Zornitza Stark Phenotypes for gene: IL2RG were changed from to Combined immunodeficiency, X-linked, moderate MIM# 312863; Severe combined immunodeficiency, X-linked MIM# 300400; recurrent viral/fungal/bacterial infections; Low T/NK cells; Low Ig levels; lymphocytopaenia; hypogammaglobulinaemia; failure to thrive; diarrhoea; Pneumonia; Thymic hypoplasia
Severe Combined Immunodeficiency v0.27 IL2RG Zornitza Stark Publications for gene: IL2RG were set to
Severe Combined Immunodeficiency v0.26 IL2RG Zornitza Stark Mode of inheritance for gene: IL2RG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Combined Immunodeficiency v0.25 IL2RG Zornitza Stark reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301584, 8462096, 8401490, 7883965, 9399950; Phenotypes: Combined immunodeficiency, X-linked, moderate MIM# 312863, Severe combined immunodeficiency, X-linked MIM# 300400, recurrent viral/fungal/bacterial infections, Low T/NK cells, Low Ig levels, lymphocytopaenia, hypogammaglobulinaemia, failure to thrive, diarrhoea, Pneumonia, Thymic hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Marked gene: FOXN1 as ready
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.24 FOXN1 Bryony Thompson Publications for gene: FOXN1 were set to 31447097; 18339010; 10206641
Severe Combined Immunodeficiency v0.23 FOXN1 Bryony Thompson Publications for gene: FOXN1 were set to
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Classified gene: FOXN1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Classified gene: FOXN1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120)
Severe Combined Immunodeficiency v0.22 FOXN1 Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.20 FOXN1 Bryony Thompson gene: FOXN1 was added
gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Expert list
Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Severe Combined Immunodeficiency v0.19 ITPKB Zornitza Stark Marked gene: ITPKB as ready
Severe Combined Immunodeficiency v0.19 ITPKB Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v0.19 ITPKB Zornitza Stark Publications for gene: ITPKB were set to
Severe Combined Immunodeficiency v0.18 ITPKB Zornitza Stark edited their review of gene: ITPKB: Changed publications: 31987846
Severe Combined Immunodeficiency v0.18 ITPKB Zornitza Stark gene: ITPKB was added
gene: ITPKB was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Review for gene: ITPKB was set to RED
Added comment: Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Severe Combined Immunodeficiency v0.17 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Severe Combined Immunodeficiency v0.16 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Severe Combined Immunodeficiency v0.16 Zornitza Stark removed gene:FOXN1 from the panel
Severe Combined Immunodeficiency v0.15 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: FOXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXN1 were set to 31447097
Phenotypes for gene: FOXN1 were set to Severe T cell lymphopaenia; Low TRECs
Review for gene: FOXN1 was set to GREEN
Added comment: 47 individuals reported. 21 newborns identified as part of SCID newborn screening had low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts.
Sources: Literature
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Marked gene: CD247 as ready
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v0.13 CD247 Zornitza Stark Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells
Severe Combined Immunodeficiency v0.12 CD247 Zornitza Stark Publications for gene: CD247 were set to
Severe Combined Immunodeficiency v0.11 CD247 Zornitza Stark Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.10 CD247 Zornitza Stark Classified gene: CD247 as Red List (low evidence)
Severe Combined Immunodeficiency v0.10 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency v0.9 CD247 Zornitza Stark reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Marked gene: PAX1 as ready
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.9 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome to Syndromic SCID; dysmorphism; ear abnormalities; Otofaciocervical syndrome 2, MIM# 615560
Severe Combined Immunodeficiency v0.8 PAX1 Zornitza Stark Classified gene: PAX1 as Green List (high evidence)
Severe Combined Immunodeficiency v0.8 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.7 PAX1 Zornitza Stark gene: PAX1 was added
gene: PAX1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 32111619
Phenotypes for gene: PAX1 were set to Syndromic SCID; dysmorphism; ear abnormalities; otofaciocervical syndrome
Review for gene: PAX1 was set to GREEN
Added comment: 6 individuals from three unrelated families.
Sources: Literature
Severe Combined Immunodeficiency v0.6 Sebastian Lunke Panel name changed from Severe Combined Immunodeficiency (absent T, present B cells) to Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency v0.5 Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS to Severe Combined Immunodeficiency (absent T, present B cells)
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Marked gene: LAT as ready
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Severe Combined Immunodeficiency v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v0.3 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27522155; 27242165; 10204488
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: At least two families and good functional data.
Sources: Expert list
Severe Combined Immunodeficiency v0.1 Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS
Severe Combined Immunodeficiency v0.0 PTPRC Zornitza Stark gene: PTPRC was added
gene: PTPRC was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PTPRC was set to Unknown
Severe Combined Immunodeficiency v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: JAK3 was set to Unknown
Severe Combined Immunodeficiency v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL7R was set to Unknown
Severe Combined Immunodeficiency v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL2RG was set to Unknown
Severe Combined Immunodeficiency v0.0 CORO1A Zornitza Stark gene: CORO1A was added
gene: CORO1A was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CORO1A was set to Unknown
Severe Combined Immunodeficiency v0.0 CD3E Zornitza Stark gene: CD3E was added
gene: CD3E was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD3E was set to Unknown
Severe Combined Immunodeficiency v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD3D was set to Unknown
Severe Combined Immunodeficiency v0.0 CD247 Zornitza Stark gene: CD247 was added
gene: CD247 was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD247 was set to Unknown
Severe Combined Immunodeficiency v0.0 Zornitza Stark Added panel Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS