Arthrogryposis
Gene: SENP7
SENP7 (SUMO1/sentrin specific peptidase 7)
EnsemblGeneIds (GRCh38): ENSG00000138468
EnsemblGeneIds (GRCh37): ENSG00000138468
OMIM: 612846, Gene2Phenotype
SENP7 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000138468
EnsemblGeneIds (GRCh37): ENSG00000138468
OMIM: 612846, Gene2Phenotype
SENP7 is in 4 panels
1 review
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are more than 3 unrelated individuals reported in literature with biallelic SENP7 variants and a congenital multisystemic disorder, with arthrogryposis multiplex congenita being a major feature. Based on available evidence, this gene should be promoted to Green for Arthrogryposis.Created: 17 Feb 2026, 11:19 a.m. | Last Modified: 17 Feb 2026, 11:19 a.m.
Panel Version: 9.21
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: LiteratureCreated: 17 Feb 2026, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis multiplex congenita, MONDO:0015168
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- arthrogryposis multiplex congenita, MONDO:0015168
- Tags
- OMIM
- 612846
- Clinvar variants
- Variants in SENP7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
17 Feb 2026, Gel status: 2
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: senp7 has been classified as Amber List (Moderate Evidence).
17 Feb 2026, Gel status: 1
Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_26_promote_green tag was added to gene: SENP7.
17 Feb 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ida Ertmanska (Genomics England Curator)gene: SENP7 was added gene: SENP7 was added to Arthrogryposis. Sources: Literature 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 Review for gene: SENP7 was set to GREEN