Predominantly Antibody Deficiency
Gene: SEC61A1EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 5 panels
3 reviews
Elena Savva (Victorian Clinical Genetics Services)
Two families with primarily renal phenotype, some haem/immunological abnormalities (anaemia/neutropaenia). Two families predominantly with hypogammaglobulinaemia, one presenting with congenital neutropaenia. May represent same disorder with different manifestations depending on age/ascertainment
PMID: 27392076: missense show significant reductions in protein and retention in the golgi. Zebrafish model recapitulated the human phenotype, where mutant RNA could not rescue. Concludes LOF.
PMID: 28782633: missense shows cellular stress maintained when coexpressing WT (?DN). PTC reported, displayed reduced protein and mRNA levels
No clear distinction btw mechanism, variant type and resulting phenotypeCreated: 27 Nov 2020, 3:20 a.m. | Last Modified: 27 Nov 2020, 3:20 a.m.
Panel Version: 0.5474
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia
Publications
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert listCreated: 21 Jul 2020, 7:51 a.m. | Last Modified: 21 Jul 2020, 7:51 a.m.
Panel Version: 0.69
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypogammaglobulinemia; common variable immunodeficiency
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.
Sources: Expert listCreated: 5 Apr 2020, 2:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
- Immunodeficiency, common variable, 15, MIM# 620670
- OMIM
- 609213
- Clinvar variants
- Variants in SEC61A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec61a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec61a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SEC61A1 was added gene: SEC61A1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 27392076; 28782633 Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections Review for gene: SEC61A1 was set to GREEN