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Intellectual disability

Gene: TBC1D23

Green List (high evidence)

TBC1D23 (TBC1 domain family member 23)
EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added PMID 28397838 Harripaul R et al. (2018)
Created: 18 Jul 2018, 2:31 p.m.
Comment on list classification: New gene added by external expert review and publications support gene-disease association and rating of this gene to Green.
More than 3 unrelated consanguineous families with a similar neurodevelopmental disorder apparent from early infancy. The families were from Turkey, Iran, and Pakistan.
Created: 18 Jul 2018, 2:29 p.m.
Marin-Valencia et al., 2017 (PMID:28823706) reported variants in the gene PCH11 lead to a autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging.
Created: 18 Jul 2018, 2:15 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple affected individuals from unrelated families reported with bi-allelic variants in this gene. ID is part of the phenotype.
Created: 22 Jun 2018, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 11

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Pontocerebellar hypoplasia, type 11, 617695
  • Intellectual disability
OMIM
617687
Clinvar variants
Variants in TBC1D23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TBC1D23.

18 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TBC1D23 were set to 28823707; 28823706; 28397838

18 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695; Intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

TBC1D23 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

TBC1D23 was created by Zornitza Stark