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Arthrogryposis

Gene: SENP7

Green List (high evidence)
SENP7 (SUMO1/sentrin specific peptidase 7)
EnsemblGeneIds (GRCh38): ENSG00000138468
EnsemblGeneIds (GRCh37): ENSG00000138468
OMIM: 612846, Gene2Phenotype
SENP7 is in 5 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 4 Feb 2025, 6:50 a.m.
Last Modified: 4 Feb 2025, 6:50 a.m.
Panel version: 0.414

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 3 Aug 2023, 2:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related

Publications

Created: 3 Aug 2023, 2:30 a.m.

Panel version: 0.399

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
OMIM
612846
Clinvar variants
Variants in SENP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SENP7 were set to PMID: 37460201

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: senp7 has been classified as Green List (High Evidence).

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: senp7 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: senp7 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: senp7 has been classified as Amber List (Moderate Evidence).

3 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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