1. Panels
  2. Kidneyome_SuperPanel_KidGen_VCGS
  3. ATP6V1B1
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: ATP6V1B1

Green List (high evidence)
ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116039
EnsemblGeneIds (GRCh37): ENSG00000116039
OMIM: 192132, Gene2Phenotype
ATP6V1B1 is in 6 panels

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Details

Mode of Inheritance
Unknown
Sources
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source KidGen_Tubulopathies v38.1.0 was added to ATP6V1B1.

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP6V1B1 was set to Unknown