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| Paediatric disorders - additional genes v7.31 | SENP7 | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with shared features arthrogryposis failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes.; to: Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with shared features of arthrogryposis, failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.31 | SENP7 | Ida Ertmanska Classified gene: SENP7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.31 | 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 shared features arthrogryposis failure to thrive, early respiratory failure, neutropenia, hypotonia and recurrent infections. In order to ensure inclusion on R27 Paediatric disorders, this gene should be promoted to Green for Paediatric disorders - additional genes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.31 | SENP7 | Ida Ertmanska Gene: senp7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.30 | SENP7 |
Ida Ertmanska gene: SENP7 was added gene: SENP7 was added to Paediatric disorders - additional genes. 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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