Arthrogryposis
Gene: SENP7
Now 4 families reported with arthrogryposis multiplex congenita and homozygous variants.Created: 4 Feb 2025, 6:50 a.m. | Last Modified: 4 Feb 2025, 6:50 a.m.
Panel Version: 0.414
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: LiteratureCreated: 3 Aug 2023, 2:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Publications
Publications for gene: SENP7 were set to PMID: 37460201
Gene: senp7 has been classified as Green List (High Evidence).
Gene: senp7 has been classified as Amber List (Moderate Evidence).
Gene: senp7 has been classified as Amber List (Moderate Evidence).
Gene: senp7 has been classified as Amber List (Moderate Evidence).
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 PMID: 37460201 Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Review for gene: SENP7 was set to AMBER