TBCK

TBC1 domain containing kinase
OMIM: 616899
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe Infantile Syndromic Encephalopathy
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe Infantile Syndromic Encephalopathy
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900