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Fetal anomalies

Gene: TBCK

Green List (high evidence)

TBCK (TBC1 domain containing kinase)
EnsemblGeneIds (GRCh38): ENSG00000145348
EnsemblGeneIds (GRCh37): ENSG00000145348
OMIM: 616899, Gene2Phenotype
TBCK is in 5 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 Severe Infantile Syndromic Encephalopathy
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Severe Infantile Syndromic Encephalopathy
OMIM
616899
Clinvar variants
Variants in TBCK
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TBCK was added gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy