Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Brain abnormalities reported.
Created: 15 Feb 2022, 9:18 a.m. | Last Modified: 15 Feb 2022, 9:18 a.m.
Panel Version: 0.3539

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
OMIM
616899
Clinvar variants
Variants in TBCK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBCK were changed from Severe Infantile Syndromic Encephalopathy to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBCK were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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