Kidneyome_SuperPanel_KidGen_VCGS
Gene: BSNDEnsemblGeneIds (GRCh38): ENSG00000162399
EnsemblGeneIds (GRCh37): ENSG00000162399
OMIM: 606412, Gene2Phenotype
BSND is in 9 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_Tubulopathies v38.1.0
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Bartter syndrome, Type 4a, MIM#602522
- OMIM
- 606412
- Clinvar variants
- Variants in BSND
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Mode of inheritance for gene BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bartter syndrome, Type 4a, MIM#602522 for gene: BSND
Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)Source KidGen_Tubulopathies v38.1.0 was added to BSND. Mode of inheritance for gene BSND was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Expert list was added to BSND. Mode of inheritance for gene BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bartter syndrome, Type 4a, MIM#602522 for gene: BSND Publications for gene BSND were changed from to 11687798; 27234911
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BSND was added gene: BSND was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BSND was set to Unknown