Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | SENP7 | Ida Ertmanska Classified gene: SENP7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | SENP7 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with recurrent infections being a major feature. Based on available evidence, this gene should be promoted to Green for Primary immunodeficiency or monogenic inflammatory bowel disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.78 | SENP7 | Ida Ertmanska Gene: senp7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.77 | SENP7 |
Ida Ertmanska gene: SENP7 was added gene: SENP7 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Q1_26_promote_green tags were added to gene: SENP7. Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to 37460201; 38972567; 39763084 Phenotypes for gene: SENP7 were set to arthrogryposis multiplex congenita, MONDO:0015168; Recurrent infections, HP:0002719 Review for gene: SENP7 was set to GREEN Added comment: PMID: 37460201 Samra et al., 2023 Report of a consanguineous family with 4 affected patients harbouring a homozygous variant SENP7 c.1474C>T; p.(Gln492*). All 4 individuals died before 4 months of age (1 fetal death). Clinical presentation included congenital arthrogryposis (3/3), failure to thrive (3/3), early respiratory failure, neutropenia (2/3), hypotonia (3/3) and recurrent infections. PMID: 38972567 Kobayashi et al., 2024 Described four infants from three consanguineous unrelated families of Guatemalan, Arab and Turkish ethnicities. Affected individuals presented with a multisystemic disorder, including hypogammaglobulinemia, neutropenia (4/4), recurrent infection (4/4), neurologic features, arthrogryposis (confirmed in 2 cases - upper extremities) and uniform early fatality (all individuals died at 5-10 months of age). F1: homozygous SENP7 c.2641C>T, p.Q881X F2: homozygous SENP7 c.880G>T, p.E294X F3: homozygous SENP7 c.973C>T, p.Q325X Heterozygosity of parents confirmed by Sanger seq. PMID: 39763084 Saad et al., 2025 Consanguineous Egyptian family with history of three fetal deaths. WES detected a homozygous SENP7 variant in affected individuals: c.745C>T, p.(Arg249*). Shared presentation included arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies. This gene is not yet associated with a disease entity in OMIM (accessed 17th Feb 2026). Sources: Literature |
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