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Hereditary ataxia with onset in adulthood
Gene: TBC1D23

TBC1D23 (TBC1 domain family member 23)
EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.

Panel Version: 2.144

The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.
Created: 26 May 2021, 12:11 p.m. | Last Modified: 26 May 2021, 12:11 p.m.

Panel Version: 2.71

Created: 26 May 2021, 12:11 p.m.
Last Modified: 26 May 2021, 12:11 p.m.
Panel version: 2.144

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset disorder.
Created: 13 Sep 2020, 7:10 a.m. | Last Modified: 13 Sep 2020, 7:10 a.m.

Panel Version: 2.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 11, MIM# 617695

Created: 13 Sep 2020, 7:10 a.m.
Last Modified: 13 Sep 2020, 7:10 a.m.
Panel version: 2.9

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Sufficient families reported across the two publications
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 11, 617695

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Pontocerebellar hypoplasia type 11 OMIM:617695
pontocerebellar hypoplasia, type 11 MONDO:0054669

OMIM

617687

Clinvar variants

Variants in TBC1D23

Penetrance

None

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: TBC1D23.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to TBC1D23. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia type 11, 617695 to Pontocerebellar hypoplasia type 11 OMIM:617695; pontocerebellar hypoplasia, type 11 MONDO:0054669

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: TBC1D23.

27 Apr 2019, Gel status: 3