| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v1.5 | POLD3 | Zornitza Stark Publications for gene: POLD3 were set to 37030525; 36395985; 27524497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.4 | POLD3 | Zornitza Stark Classified gene: POLD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.4 | POLD3 | Zornitza Stark Gene: pold3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v1.3 | CORO1A | Zornitza Stark Tag treatable tag was added to gene: CORO1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.3 | POLD3 | Bryony Thompson Marked gene: POLD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.3 | POLD3 | Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.3 | POLD3 | Bryony Thompson Phenotypes for gene: POLD3 were changed from Severe combined immunodeficiency to Severe combined immunodeficiency MONDO:0015974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.2 | POLD3 | Bryony Thompson Publications for gene: POLD3 were set to PMID: 37030525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.2 | POLD3 | Bryony Thompson Classified gene: POLD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.2 | POLD3 | Bryony Thompson Gene: pold3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v1.0 | JAK3 | Zornitza Stark Tag treatable tag was added to gene: JAK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.0 | CD3E | Zornitza Stark Tag treatable tag was added to gene: CD3E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.0 | CD3D | Zornitza Stark Tag treatable tag was added to gene: CD3D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.0 | FOXN1 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.46 | PTPRC | Zornitza Stark Marked gene: PTPRC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.46 | PTPRC | Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.45 | PTPRC | Zornitza Stark Publications for gene: PTPRC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.44 | PTPRC | Zornitza Stark Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.43 | JAK3 | Zornitza Stark Marked gene: JAK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.43 | JAK3 | Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.42 | JAK3 | Zornitza Stark Publications for gene: JAK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.41 | JAK3 | Zornitza Stark Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.40 | IL7R | Zornitza Stark Marked gene: IL7R as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.40 | IL7R | Zornitza Stark Gene: il7r has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.39 | IL7R | Zornitza Stark Publications for gene: IL7R were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.38 | IL7R | Zornitza Stark Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.37 | CORO1A | Zornitza Stark Marked gene: CORO1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.37 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.37 | CORO1A | Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM# 615401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.36 | CORO1A | Zornitza Stark Publications for gene: CORO1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.35 | CORO1A | Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) v0.34 | CD3E | Zornitza Stark Marked gene: CD3E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.34 | CD3E | Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.34 | CD3E | Zornitza Stark Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.33 | CD3E | Zornitza Stark Publications for gene: CD3E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.32 | CD3E | Zornitza Stark Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.31 | CD3D | Zornitza Stark Marked gene: CD3D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.31 | CD3D | Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.31 | CD3D | Zornitza Stark Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.30 | CD3D | Zornitza Stark Publications for gene: CD3D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.29 | CD3D | Zornitza Stark Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) v0.28 | IL2RG | Zornitza Stark Marked gene: IL2RG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.28 | IL2RG | Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.27 | IL2RG | Zornitza Stark Publications for gene: IL2RG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) v0.24 | FOXN1 | Bryony Thompson Marked gene: FOXN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.24 | FOXN1 | Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.24 | FOXN1 | Bryony Thompson Publications for gene: FOXN1 were set to 31447097; 18339010; 10206641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.23 | FOXN1 | Bryony Thompson Publications for gene: FOXN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Classified gene: FOXN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Classified gene: FOXN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Added comment: Comment on list classification: On IUIS gene list (PMID: 32048120) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.22 | FOXN1 | Bryony Thompson Gene: foxn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Marked gene: ITPKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.19 | ITPKB | Zornitza Stark Publications for gene: ITPKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.18 | ITPKB | Zornitza Stark edited their review of gene: ITPKB: Changed publications: 31987846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v0.17 | CD247 | Zornitza Stark Classified gene: CD247 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.17 | CD247 | Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 (absent T present B cells) v0.16 | Zornitza Stark removed gene:FOXN1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v0.13 | CD247 | Zornitza Stark Marked gene: CD247 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.13 | CD247 | Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.12 | CD247 | Zornitza Stark Publications for gene: CD247 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.11 | CD247 | Zornitza Stark Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.10 | CD247 | Zornitza Stark Classified gene: CD247 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.10 | CD247 | Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.9 | PAX1 | Zornitza Stark Marked gene: PAX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.9 | PAX1 | Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) v0.8 | PAX1 | Zornitza Stark Classified gene: PAX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.8 | PAX1 | Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v0.4 | LAT | Zornitza Stark Marked gene: LAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.4 | LAT | Zornitza Stark Gene: lat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.4 | LAT | Zornitza Stark Classified gene: LAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) v0.4 | LAT | Zornitza Stark Gene: lat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) 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 |
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| Severe Combined Immunodeficiency (absent T present B cells) v0.0 | Zornitza Stark Added panel Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||