Paediatric disorders - additional genes

Gene: SENP7

Green List (high evidence)

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.

Created: 17 Feb 2026, 11:28 a.m. | Last Modified: 17 Feb 2026, 11:28 a.m.

Panel Version: 7.31

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

Created: 17 Feb 2026, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis multiplex congenita, MONDO:0015168; Recurrent infections, HP:0002719

Publications

• 37460201
• 38972567
• 39763084