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  3. SENP7
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Predominantly Antibody Deficiency

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 individuals from three unrelated families reported with biallelic variants and neurodevelopmental abnormalities, dysmorphism, and immunodeficiency, including hypogammaglobulinaemia.
Sources: Literature
Created: 17 Jul 2024, 3:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 17 Jul 2024, 3:57 a.m.

Panel version: 0.133

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, 2:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Aug 2023, 2:32 a.m.

Panel version: Imported from Mendeliome panel version 1.1060

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • 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

17 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SENP7 was added gene: SENP7 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to 38972567 Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Review for gene: SENP7 was set to GREEN