1. Panels
  2. Brain Calcification
  3. TBC1D20
STRs in panel
Prev Next
Regions in panel
Prev Next

Brain Calcification

Gene: TBC1D20

Red List (low evidence)
TBC1D20 (TBC1 domain family member 20)
EnsemblGeneIds (GRCh38): ENSG00000125875
EnsemblGeneIds (GRCh37): ENSG00000125875
OMIM: 611663, Gene2Phenotype
TBC1D20 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 4, MIM# 615663

Created: 2 May 2023, 6:39 a.m.
Last Modified: 2 May 2023, 6:39 a.m.
Panel version: 1.58

Yetong Chen (University of Melbourne)

Red List (low evidence)

Limited evidence supports the causal role of TBC1D20 in brain calcification.
PMID 32740904 reports one patient (case 34) with homozygous TBC1D20 variant (c.199C>T (p.Arg67*)) who developed bilateral faint calcification in basal ganglia.
Sources: Expert list
Created: 2 May 2023, 4:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341

Publications

Created: 2 May 2023, 4:47 a.m.

Panel version: 1.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Warburg micro syndrome 4, MIM# 615663
OMIM
611663
Clinvar variants
Variants in TBC1D20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d20 has been classified as Red List (Low Evidence).

2 May 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D20 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 to Warburg micro syndrome 4, MIM# 615663

2 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d20 has been classified as Red List (Low Evidence).

2 May 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: TBC1D20 was added gene: TBC1D20 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 32740904 Phenotypes for gene: TBC1D20 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Review for gene: TBC1D20 was set to RED