| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | NUDCD3 |
Peter McNaughton gene: NUDCD3 was added gene: NUDCD3 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: 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 Review for gene: NUDCD3 was set to GREEN Added comment: Multiple familial cases from 4 unrelated consanguineous kindreds of South Asian origin presenting with SCID or Omenn syndrome. Extensive functional validation including knock in mouse model demonstrating impaired VDJ recombination. Sources: Literature |
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | LIG4 | Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Marked gene: PSMB10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Classified gene: PSMB10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.7 | PSMB10 | Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.6 | PSMB10 |
Zornitza Stark gene: PSMB10 was added gene: PSMB10 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: 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 Review for gene: PSMB10 was set to GREEN Added comment: Six individuals with three de novo missense variants. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash. Sources: Literature |
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.5 | LCP2 | Zornitza Stark Classified gene: LCP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.5 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.4 | LCP2 | Zornitza Stark edited their review of gene: LCP2: Added comment: PMID 36474126: 3-year-old child who was born to first-cousins parents and presented with recurrent infections, failure to thrive, and severe EBV-related infection and lymphoproliferation. Functional testing linking gene with impaired t cell signalling.; Changed rating: AMBER; Changed publications: 33231617, 36474126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.4 |
Zornitza Stark HPO terms changed from to Severe combined immunodeficiency, HP:0004430 List of related panels changed from to Severe combined immunodeficiency; HP:0004430 |
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.3 | LIG1 | Zornitza Stark Marked gene: LIG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.3 | LIG1 | Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.3 | LIG1 | Zornitza Stark Phenotypes for gene: LIG1 were changed from Severe combined immunodeficiency to Immunodeficiency 96, MIM# 619774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.2 | LIG1 | Zornitza Stark Classified gene: LIG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.2 | LIG1 | Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | LIG1 | Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 96, MIM# 619774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | LIG1 | Peter McNaughton changed review comment from: Sources: Literature; to: 3x individuals from 2x kindreds presenting with SCID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | LIG1 |
Peter McNaughton gene: LIG1 was added gene: LIG1 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: 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 Severe combined immunodeficiency Review for gene: LIG1 was set to GREEN Added comment: Sources: Literature |
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| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | LIG4 | Zornitza Stark Tag treatable tag was added to gene: LIG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | AK2 | Zornitza Stark Tag treatable tag was added to gene: AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.36 | PRKDC | Zornitza Stark Marked gene: PRKDC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.36 | PRKDC | Zornitza Stark Gene: prkdc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.36 | PRKDC | Zornitza Stark Phenotypes for gene: PRKDC were changed from 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 (absent T absent B cells) v0.35 | PRKDC | Zornitza Stark Publications for gene: PRKDC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.34 | PRKDC | Zornitza Stark Mode of inheritance for gene: PRKDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.33 | LIG4 | Zornitza Stark Marked gene: LIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.33 | LIG4 | Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.33 | LIG4 | Zornitza Stark Phenotypes for gene: LIG4 were changed from 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 (absent T absent B cells) v0.32 | LIG4 | Zornitza Stark Publications for gene: LIG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.31 | LIG4 | Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Marked gene: DCLRE1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.30 | DCLRE1C | Zornitza Stark Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Absent/reduced T and B cells; decreased Ig levels; Normal NK cell number; increased risk of graft rejection possibly due to activated NK cells; radiation sensitivity; failure to thrive; recurrent respiratory infections; diarrhoea; fever; hypogammmaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.29 | DCLRE1C | Zornitza Stark Publications for gene: DCLRE1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.28 | DCLRE1C | Zornitza Stark Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | PRKDC | Danielle Ariti reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19075392, 23722905; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | LIG4 | Danielle Ariti reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27717373, 10911993; Phenotypes: 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | DCLRE1C | Danielle Ariti reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19953608, 15699179, 12055248, 34220820; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Absent/reduced T and B cells, decreased Ig levels, Normal NK cell number, increased risk of graft rejection possibly due to activated NK cells, radiation sensitivity, failure to thrive, recurrent respiratory infections, diarrhoea, fever, hypogammmaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | AK2 | Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; MONDO:0009973; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark edited their review of gene: AK2: Changed publications: 19043417, 19043416, 33628209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Marked gene: AK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Added comment: Comment when marking as ready: Variants in this gene identified in SCID cohorts, e.g. PMID 33628209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.25 | AK2 | Zornitza Stark Publications for gene: AK2 were set to 19043417; 19043416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.24 | AK2 | Zornitza Stark Publications for gene: AK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.23 | AK2 | Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.22 | AK2 | Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropaenia, leukopaenia, lymphopaenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.22 | ADA | Zornitza Stark Marked gene: ADA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.22 | ADA | Zornitza Stark Gene: ada has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.22 | ADA | Zornitza Stark Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.21 | ADA | Zornitza Stark Publications for gene: ADA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.20 | ADA | Zornitza Stark Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.19 | ADA | Zornitza Stark changed review comment from: Well established gene-disease association, multiple families, variable severity.; to: Well established gene-disease association, multiple families, variable severity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.19 | ADA | Zornitza Stark edited their review of gene: ADA: Changed publications: 3007108, 3475710, 8178821, 8227344, 2783588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.19 | ADA | Zornitza Stark reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 46025, 3007108, 3475710, 8178821, 8227344, 2783588; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.19 | LCP2 | Zornitza Stark Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.18 | LCP2 | Zornitza Stark edited their review of gene: LCP2: Changed phenotypes: Immunodeficiency 81, MIM# 619374, Severe combined immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.18 | NHEJ1 | Zornitza Stark Marked gene: NHEJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.18 | NHEJ1 | Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.18 | NHEJ1 | Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.17 | NHEJ1 | Zornitza Stark Publications for gene: NHEJ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.16 | NHEJ1 | Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.15 | NHEJ1 | Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.14 | LCP2 | Zornitza Stark Marked gene: LCP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.14 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.14 | LCP2 |
Zornitza Stark gene: LCP2 was added gene: LCP2 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: 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 Severe combined immunodeficiency Review for gene: LCP2 was set to RED Added comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. Sources: Literature |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.13 | RAG2 | Zornitza Stark Marked gene: RAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.13 | RAG2 | Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.13 | RAG2 | Zornitza Stark Phenotypes for gene: RAG2 were changed from to Severe combined immunodeficiency, B cell-negative (MIM#601457) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.12 | RAG2 | Zornitza Stark Publications for gene: RAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.11 | RAG2 | Zornitza Stark Mode of inheritance for gene: RAG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.10 | RAG1 | Zornitza Stark Marked gene: RAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.10 | RAG1 | Zornitza Stark Added comment: Comment when marking as ready: Well established SCID gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.10 | RAG1 | Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.10 | RAG1 | Zornitza Stark Phenotypes for gene: RAG1 were changed from to Severe combined immunodeficiency, B cell-negative (MIM#601457) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.9 | RAG1 | Zornitza Stark Publications for gene: RAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.8 | RAG1 | Zornitza Stark Mode of inheritance for gene: RAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.7 | RAG2 | Crystle Lee reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996199; Phenotypes: Severe combined immunodeficiency, B cell-negative (MIM#601457); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.7 | RAG1 | Crystle Lee reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26689875, 26186701; Phenotypes: Severe combined immunodeficiency, B cell-negative (MIM#601457); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Marked gene: RAC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Marked gene: RAC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Classified gene: RAC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.6 | RAC2 | Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.5 | RAC2 |
Zornitza Stark gene: RAC2 was added gene: RAC2 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: 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 Review for gene: RAC2 was set to GREEN Added comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model. Sources: Expert list |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.4 | Sebastian Lunke Panel name changed from Severe Combined Immunodeficiency (absent T, absent B cells) to Severe Combined Immunodeficiency (absent T absent B cells) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.3 |
Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS to Severe Combined Immunodeficiency (absent T, absent B cells) Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.1 | Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | RAG2 |
Zornitza Stark gene: RAG2 was added gene: RAG2 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RAG2 was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | RAG1 |
Zornitza Stark gene: RAG1 was added gene: RAG1 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RAG1 was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | PRKDC |
Zornitza Stark gene: PRKDC was added gene: PRKDC was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PRKDC was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NHEJ1 was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: LIG4 was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: DCLRE1C was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: AK2 was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ADA was set to Unknown |
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| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | Zornitza Stark Added panel Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||