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| Combined Immunodeficiency v1.142 | GINS4 | Zornitza Stark Publications for gene: GINS4 were set to 36345943 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.141 | GINS4 | Zornitza Stark Classified gene: GINS4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.141 | GINS4 | Zornitza Stark Gene: gins4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.140 | GINS4 | Zornitza Stark edited their review of gene: GINS4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.140 | GINS4 |
Zornitza Stark changed review comment from: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features. PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; to: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features. PMID 40768335 reports further studies on the previously reported siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality. |
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| Combined Immunodeficiency v1.140 | GINS4 |
Zornitza Stark edited their review of gene: GINS4: Added comment: PMID 40510848 reports 4 individuals from 3 unrelated families with same homozygous missense (p.Val171Met) variant and congenital neutropenia, growth retardation, NK‑cell deficiency and other immunodeficiency features. PMID 40768335 reports two affected siblings with compound heterozygous GINS4 variants (c.511G>C p.V171L and c.571C>T p.Q191X) presenting with childhood‑onset natural killer cell deficiency, recurrent viral infections, growth retardation and neutropenia. The parents are heterozygous carriers and clinically unaffected. Functional studies using patient‑derived iPSCs demonstrate reduced GINS4 protein, impaired NK‑cell lineage proliferation, G2/M arrest, increased apoptosis, and allele‑specific expression bias; CRISPR‑mediated correction rescues the NK‑cell phenotype, confirming causality.; Changed publications: 39914554, 40510848 |
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| Combined Immunodeficiency v1.138 | GINS4 | Zornitza Stark changed review comment from: Further two individuals reported as part of NK cell deficiency cohort.; to: Same two sibs reported as part of NK cell deficiency cohort. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.138 | GINS4 | Zornitza Stark edited their review of gene: GINS4: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.138 | GINS4 | Zornitza Stark reviewed gene: GINS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39914554; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.92 | GINS4 | Bryony Thompson Marked gene: GINS4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.92 | GINS4 | Bryony Thompson Gene: gins4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.92 | GINS4 |
Bryony Thompson gene: GINS4 was added gene: GINS4 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS4 were set to 36345943 Phenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131 Review for gene: GINS4 was set to RED Added comment: 2 affected siblings with compound het variants are reported in a single family. Sources: Expert list |
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