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Autoimmune Lymphoproliferative Syndrome v2.0 CASP10 Gene migrated from ENSG00000003400 to ENSG00000003400 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 RASGRP1 Gene migrated from ENSG00000172575 to ENSG00000172575 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3CD Gene migrated from ENSG00000171608 to ENSG00000171608 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB1 Gene migrated from ENSG00000109320 to ENSG00000109320 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 MAGT1 Gene migrated from ENSG00000102158 to ENSG00000102158 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 KRAS Gene migrated from ENSG00000133703 to ENSG00000133703 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ITK Gene migrated from ENSG00000113263 to ENSG00000113263 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FASLG Gene migrated from ENSG00000117560 to ENSG00000117560 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FADD Gene migrated from ENSG00000168040 to ENSG00000168040 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CASP8 Gene migrated from ENSG00000064012 to ENSG00000064012 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 FAS Gene migrated from ENSG00000026103 to ENSG00000026103 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 STAT3 Gene migrated from ENSG00000168610 to ENSG00000168610 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NFKB2 Gene migrated from ENSG00000077150 to ENSG00000077150 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PIK3R1 Gene migrated from ENSG00000145675 to ENSG00000145675 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 PRKCD Gene migrated from ENSG00000163932 to ENSG00000163932 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 LRBA Gene migrated from ENSG00000198589 to ENSG00000198589 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 CTLA4 Gene migrated from ENSG00000163599 to ENSG00000163599 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 NRAS Gene migrated from ENSG00000213281 to ENSG00000213281 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 IKZF1 Gene migrated from ENSG00000185811 to ENSG00000185811 (gene set migration)
Autoimmune Lymphoproliferative Syndrome v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.12
Autoimmune Lymphoproliferative Syndrome v1.12 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen due to relatively high pop frequency of some of the missense variants.
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark Classified gene: CASP10 as Amber List (moderate evidence)
Autoimmune Lymphoproliferative Syndrome v1.12 CASP10 Zornitza Stark Gene: casp10 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v1.11 CASP10 Zornitza Stark reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autoimmune Lymphoproliferative Syndrome v1.11 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Autoimmune Lymphoproliferative Syndrome v1.11 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.11 IKZF1 Zornitza Stark Classified gene: IKZF1 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.11 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.10 CASP8 Zornitza Stark Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088
Autoimmune Lymphoproliferative Syndrome v1.9 CASP8 Zornitza Stark Classified gene: CASP8 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.9 CASP8 Zornitza Stark Gene: casp8 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.8 CASP8 Zornitza Stark changed review comment from: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation. GREEN but any variants apart from the founder variant should be treated with caution.; to: Additional individual reported, bring up total to 7 individuals from 5 families. All had the same homozygous missense variant, p.Arg265Trp. Some known to be distantly related. CIDP was a common manifestation.

GREEN but any variants apart from the founder variant should be treated with caution.
Autoimmune Lymphoproliferative Syndrome v1.8 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 41026346; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoimmune Lymphoproliferative Syndrome v1.8 IKZF1 Peter McNaughton gene: IKZF1 was added
gene: IKZF1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to PMID: 32654692
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation
Review for gene: IKZF1 was set to GREEN
Added comment: ~30% of patients present with ALPS like autoimmunity +/- lymphoproliferation.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.8 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from APDS to Immunodeficiency 36, MIM# 616005
Autoimmune Lymphoproliferative Syndrome v1.7 PIK3R1 Zornitza Stark Classified gene: PIK3R1 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.7 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.6 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Autoimmune Lymphoproliferative Syndrome v1.6 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.6 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from APDS to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513
Autoimmune Lymphoproliferative Syndrome v1.5 PIK3CD Zornitza Stark Classified gene: PIK3CD as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.5 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.4 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Autoimmune Lymphoproliferative Syndrome v1.4 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.4 NFKB1 Zornitza Stark Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM# 616576
Autoimmune Lymphoproliferative Syndrome v1.3 NFKB1 Zornitza Stark Classified gene: NFKB1 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.3 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.2 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Autoimmune Lymphoproliferative Syndrome v1.2 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.2 NFKB2 Zornitza Stark Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577
Autoimmune Lymphoproliferative Syndrome v1.1 NFKB2 Zornitza Stark Classified gene: NFKB2 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v1.1 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v1.0 NFKB2 Peter McNaughton gene: NFKB2 was added
gene: NFKB2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB2 were set to PMID: 39644063
Review for gene: NFKB2 was set to GREEN
Added comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v1.0 NFKB1 Peter McNaughton gene: NFKB1 was added
gene: NFKB1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKB1 were set to PMID: 39644063
Added comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v1.0 PIK3CD Peter McNaughton gene: PIK3CD was added
gene: PIK3CD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3CD were set to PMID: 39644063
Phenotypes for gene: PIK3CD were set to APDS
Review for gene: PIK3CD was set to GREEN
Added comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v1.0 PIK3R1 Peter McNaughton gene: PIK3R1 was added
gene: PIK3R1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to PMID: 39644063
Phenotypes for gene: PIK3R1 were set to APDS
Review for gene: PIK3R1 was set to GREEN
Added comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Autoimmune Lymphoproliferative Syndrome v0.32 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Autoimmune Lymphoproliferative Syndrome v0.32 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.32 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Autoimmune Lymphoproliferative Syndrome v0.32 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.32 Zornitza Stark Panel status changed from internal to public
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Autoimmune Lymphoproliferative Syndrome v0.30 STAT3 Ain Roesley Classified gene: STAT3 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.30 STAT3 Ain Roesley Gene: stat3 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.29 STAT3 Ain Roesley gene: STAT3 was added
gene: STAT3 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 36228738
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Review for gene: STAT3 was set to GREEN
gene: STAT3 was marked as current diagnostic
Added comment: PMID:36228738;
Also known as STAT3 GoF syndrome, this review contains 191 patients with 72 unique variants
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.28 RASGRP1 Ain Roesley Classified gene: RASGRP1 as Amber List (moderate evidence)
Autoimmune Lymphoproliferative Syndrome v0.28 RASGRP1 Ain Roesley Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.27 RASGRP1 Ain Roesley gene: RASGRP1 was added
gene: RASGRP1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP1 were set to 29155103; 39752212
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 MIM#618534
Review for gene: RASGRP1 was set to AMBER
gene: RASGRP1 was marked as current diagnostic
Added comment: PMID:29155103; 2 siblings Chet for Thr214Ile and Lys322*

PMID:39752212; 1x hom 'LoF' variant (unable to access paper)

PMID: 39278845; 1x patient from a cohort of autoimmune lymphoproliferative immunodeficiencies. Thr312Ala. did not indicate if homozygous or single hit

Amber due to quality of papers/journals
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Marked gene: PRKCD as ready
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Gene: prkcd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Classified gene: PRKCD as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.26 PRKCD Ain Roesley Gene: prkcd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.25 PRKCD Ain Roesley gene: PRKCD was added
gene: PRKCD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKCD were set to 37794137
Phenotypes for gene: PRKCD were set to Autoimmune lymphoproliferative syndrome, type III MIM#615559
Review for gene: PRKCD was set to GREEN
gene: PRKCD was marked as current diagnostic
Added comment: PMID:37794137; lit review with >10 families
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Marked gene: LRBA as ready
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Gene: lrba has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Classified gene: LRBA as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.24 LRBA Ain Roesley Gene: lrba has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.23 LRBA Ain Roesley gene: LRBA was added
gene: LRBA was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 38302222; 25931386
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Review for gene: LRBA was set to GREEN
gene: LRBA was marked as current diagnostic
Added comment: PMID:38302222; 5x in Center for Chronic Immunodeficiency in Freiburg, Germany database

PMID:25931386; 2 families in the report + 6 others in review table
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Marked gene: CTLA4 as ready
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Classified gene: CTLA4 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.22 CTLA4 Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.21 CTLA4 Ain Roesley gene: CTLA4 was added
gene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTLA4 were set to 39060684; 38302222
Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
Review for gene: CTLA4 was set to GREEN
gene: CTLA4 was marked as current diagnostic
Added comment: PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC

PMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Marked gene: ADA2 as ready
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Gene: ada2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Classified gene: ADA2 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.20 ADA2 Ain Roesley Gene: ada2 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.19 ADA2 Ain Roesley gene: ADA2 was added
gene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Review for gene: ADA2 was set to GREEN
gene: ADA2 was marked as current diagnostic
Added comment: PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar

PMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2

PMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro and both had complete absence of inosine, an adenosine-derived product.
Leu188Phe is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL
Thr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL

PMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs in v4. high conservation + REVEL 0.7
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Marked gene: NRAS as ready
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Gene: nras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Classified gene: NRAS as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.18 NRAS Ain Roesley Gene: nras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.17 NRAS Ain Roesley gene: NRAS was added
gene: NRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 39060684; 17517660; 33011939
Phenotypes for gene: NRAS were set to autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Review for gene: NRAS was set to GREEN
gene: NRAS was marked as current diagnostic
Added comment: PMID:39060684; 1x individual with Gly13Asp

PMID:17517660; 1x de novo GoF variant Gly13Asp.
NB: PMID:21079152 states that the paper above is a somatic variant. However, lymphoblasts, monocytes, and buccal epithelial cells, all demonstrating a heterozygous variant

PMID:33011939; review with 11x individuals
Gly13Asp, Gly12Val, Gly12Ser, Gly13Cys
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.16 MAGT1 Ain Roesley Marked gene: MAGT1 as ready
Autoimmune Lymphoproliferative Syndrome v0.16 MAGT1 Ain Roesley Gene: magt1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.16 MAGT1 Ain Roesley Classified gene: MAGT1 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.16 MAGT1 Ain Roesley Gene: magt1 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.15 MAGT1 Ain Roesley gene: MAGT1 was added
gene: MAGT1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 39060684; 25956530; 34447369
Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853
Review for gene: MAGT1 was set to GREEN
gene: MAGT1 was marked as current diagnostic
Added comment: >5 unrelated males with ALPS-like
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.14 KRAS Ain Roesley Marked gene: KRAS as ready
Autoimmune Lymphoproliferative Syndrome v0.14 KRAS Ain Roesley Gene: kras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.14 KRAS Ain Roesley Classified gene: KRAS as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.14 KRAS Ain Roesley Gene: kras has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.13 KRAS Ain Roesley gene: KRAS was added
gene: KRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 27577878; 39060684; 21079152
Phenotypes for gene: KRAS were set to RAS-associated autoimmune leukoproliferative disorder MIM#614470
Review for gene: KRAS was set to GREEN
gene: KRAS was marked as current diagnostic
Added comment: Recurrent variant Gly13Cys

PMID:39060684
2x individuals with atypical ALPS - Gly13Cys

PMID:27577878
1x de novo mosaic in blood individual with ALPS - Gly13Cys

PMID:21079152
1x individual with ALPS-like syndrome somatic for Gly13Cys
1x individual with ALPS-like syndrome somatic for Gly12Asp
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.12 ITK Ain Roesley Marked gene: ITK as ready
Autoimmune Lymphoproliferative Syndrome v0.12 ITK Ain Roesley Gene: itk has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.12 ITK Ain Roesley Classified gene: ITK as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.12 ITK Ain Roesley Gene: itk has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.11 ITK Ain Roesley gene: ITK was added
gene: ITK was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITK were set to 19425169; 22289921; 25061172; 26056787; 9311799; 10213685
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1 MIM#613011
Review for gene: ITK was set to GREEN
gene: ITK was marked as current diagnostic
Added comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype.

Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.

Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.10 FASLG Ain Roesley Classified gene: FASLG as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.10 FASLG Ain Roesley Gene: faslg has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.9 FASLG Ain Roesley gene: FASLG was added
gene: FASLG was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASLG were set to 16627752; 17605793; 19794494; 8787672; 22857792; 33356695; 26334989; 25451160
Phenotypes for gene: FASLG were set to Autoimmune lymphoproliferative syndrome, type IB MIM#601859
Review for gene: FASLG was set to GREEN
gene: FASLG was marked as current diagnostic
Added comment: Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association
PMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism
PMID: 11457890, 19794494 - supporting deficient mouse models
PMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.8 FADD Ain Roesley Marked gene: FADD as ready
Autoimmune Lymphoproliferative Syndrome v0.8 FADD Ain Roesley Gene: fadd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.8 FADD Ain Roesley Classified gene: FADD as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.8 FADD Ain Roesley Gene: fadd has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.7 FADD Ain Roesley gene: FADD was added
gene: FADD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FADD were set to 21109225; 25794656; 32350755; 32971525
Phenotypes for gene: FADD were set to FADD-related immunodeficiency MONDO:0013408
Review for gene: FADD was set to GREEN
gene: FADD was marked as current diagnostic
Added comment: 3 families reported so far. 2 apparently unrelated consanguineous Pakistani families with autoimmune lymphoproliferative syndrome both segregating homozygous p.Cys105Trp. A single compound het case with p.Cys105Arg and a frameshift variant. Also, FADD deficient mouse models support a role in immunodeficiency. Null mice are embryonic lethal.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.6 CASP10 Ain Roesley Marked gene: CASP10 as ready
Autoimmune Lymphoproliferative Syndrome v0.6 CASP10 Ain Roesley Gene: casp10 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.6 CASP10 Ain Roesley Classified gene: CASP10 as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.6 CASP10 Ain Roesley Gene: casp10 has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.5 CASP10 Ain Roesley gene: CASP10 was added
gene: CASP10 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASP10 were set to 34329798; 34384744; 20301287
Phenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Review for gene: CASP10 was set to GREEN
gene: CASP10 was marked as current diagnostic
Added comment: Total of 15 individuals included in the review.

Asymptomatic carriers noted.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.4 CASP8 Ain Roesley Marked gene: CASP8 as ready
Autoimmune Lymphoproliferative Syndrome v0.4 CASP8 Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.4 CASP8 Ain Roesley Classified gene: CASP8 as Amber List (moderate evidence)
Autoimmune Lymphoproliferative Syndrome v0.4 CASP8 Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence).
Autoimmune Lymphoproliferative Syndrome v0.3 CASP8 Ain Roesley gene: CASP8 was added
gene: CASP8 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088
Phenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Review for gene: CASP8 was set to AMBER
gene: CASP8 was marked as current diagnostic
Added comment: Amber due to functional studies

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.2 FAS Ain Roesley Marked gene: FAS as ready
Autoimmune Lymphoproliferative Syndrome v0.2 FAS Ain Roesley Gene: fas has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.2 FAS Ain Roesley Classified gene: FAS as Green List (high evidence)
Autoimmune Lymphoproliferative Syndrome v0.2 FAS Ain Roesley Gene: fas has been classified as Green List (High Evidence).
Autoimmune Lymphoproliferative Syndrome v0.1 FAS Ain Roesley gene: FAS was added
gene: FAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA MIM#601859
Review for gene: FAS was set to GREEN
gene: FAS was marked as current diagnostic
Added comment: Well established association
Sources: Literature
Autoimmune Lymphoproliferative Syndrome v0.0 Ain Roesley Added Panel Autoimmune Lymphoproliferative Syndrome