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  2. Fetal anomalies
  3. TBC1D24
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Fetal anomalies

Gene: TBC1D24

Green List (high evidence)
TBC1D24 (TBC1 domain family member 24)
EnsemblGeneIds (GRCh38): ENSG00000162065
EnsemblGeneIds (GRCh37): ENSG00000162065
OMIM: 613577, Gene2Phenotype
TBC1D24 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for NON SYNDROMAL HEARING LOSS, Confirmed for MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, and Confirmed for DOORS SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for DOORS SYNDROME, and listed as All missense/in frame for NON SYNDROMAL HEARING LOSS and MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
  • DOORS SYNDROME
  • NON SYNDROMAL HEARING LOSS
OMIM
613577
Clinvar variants
Variants in TBC1D24
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes DOORS SYNDROME for gene: TBC1D24

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL for gene: TBC1D24

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TBC1D24 was added gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS