Optic neuropathy

Gene: TBC1D20

Red List (low evidence)

TBC1D20 (TBC1 domain family member 20)
EnsemblGeneIds (GRCh38): ENSG00000125875
EnsemblGeneIds (GRCh37): ENSG00000125875
OMIM: 611663, Gene2Phenotype
TBC1D20 is in 8 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
WARBURG MICRO SYNDROME 4 615663

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • WARBURG MICRO SYNDROME 4 615663
OMIM
611663
Clinvar variants
Variants in TBC1D20
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBC1D20 were changed from to WARBURG MICRO SYNDROME 4 615663

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: TBC1D20 was added gene: TBC1D20 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TBC1D20 was set to