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  3. TBC1D8B
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Proteinuria

Gene: TBC1D8B

Green List (high evidence)
TBC1D8B (TBC1 domain family member 8B)
EnsemblGeneIds (GRCh38): ENSG00000133138
EnsemblGeneIds (GRCh37): ENSG00000133138
TBC1D8B is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

2 unrelated families with functional data.
Created: 23 Dec 2019, 5:02 a.m. | Last Modified: 23 Dec 2019, 5:02 a.m.
Panel Version: 0.408

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Nephrotic syndrome, type 20, MIM# 301028

Publications

Created: 23 Dec 2019, 5:02 a.m.
Last Modified: 23 Dec 2019, 5:02 a.m.
Panel version: Imported from Mendeliome panel version 0.408

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

2 unrelated families with functional data.
Created: 23 Dec 2019, 4:59 a.m. | Last Modified: 23 Dec 2019, 4:59 a.m.
Panel Version: 0.54

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Nephrotic syndrome, type 20, MIM# 301028

Publications

Created: 23 Dec 2019, 4:59 a.m.
Last Modified: 23 Dec 2019, 4:59 a.m.
Panel version: 0.54

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 20, MIM# 301028
Clinvar variants
Variants in TBC1D8B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d8b has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028

23 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D8B were set to

23 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D8B was added gene: TBC1D8B was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D8B was set to Unknown