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  2. Anophthalmia_Microphthalmia_Coloboma
  3. TBC1D20
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Anophthalmia_Microphthalmia_Coloboma

Gene: TBC1D20

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, microphthalmia is a feature.
Created: 28 Dec 2020, 8 a.m. | Last Modified: 28 Dec 2020, 8 a.m.
Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warburg micro syndrome 4, MIM# 615663

Publications

Created: 28 Dec 2020, 8 a.m.
Last Modified: 28 Dec 2020, 8 a.m.
Panel version: 0.165

Details

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

History Filter Activity

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d20 has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM# 615663

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D20 were set to

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBC1D20 was added gene: TBC1D20 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D20 was set to Unknown