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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Syndromic complex neurodevelopmental disorder is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy.
There is clinical variability in patients, ranging from mild to severe. The severe phenotype is progressive, often leads to early death, and consists of prominent motor neuron degeneration, profound intellectual disability, leukoencephalopathy and brain atrophy, chronic respiratory failure, refractory epilepsy, and clinical features reminiscent of lysosomal storage disorders. The milder form is non-progressive, and presents with mild intellectual disability, autistic features, and mild motor impairment. Functional studies present.

Founder variant known as the Boricua mutation in individuals of Puerto Rican descent (p.Arg126*) that is associated with the severe phenotype.
Created: 7 Feb 2025, 1:11 p.m. | Last Modified: 7 Feb 2025, 1:11 p.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic complex neurodevelopmental disorder MONDO:0800439

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
OMIM
616899
Clinvar variants
Variants in TBCK
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive