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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TBC1D23
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Cerebellar and Pontocerebellar Hypoplasia

Gene: TBC1D23

Green List (high evidence)
TBC1D23 (TBC1 domain family member 23)
EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven unrelated families reported.
Created: 16 Apr 2020, 11:25 p.m. | Last Modified: 16 Apr 2020, 11:25 p.m.
Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 11, MIM# 617695

Publications

Created: 16 Apr 2020, 11:25 p.m.
Last Modified: 16 Apr 2020, 11:25 p.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 11, MIM# 617695
OMIM
617687
Clinvar variants
Variants in TBC1D23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d23 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695

16 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D23 were set to

16 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBC1D23 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: TBC1D23 was added gene: TBC1D23 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D23 was set to Unknown