TBC1D24

TBC1 domain family member 24
OMIM: 613577
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOORS SYNDROME 220500, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021, NON SYNDROMAL HEARING LOSS 614617
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, DOORS SYNDROME, NON SYNDROMAL HEARING LOSS
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 16 615338, Myoclonic epilepsy, infantile, familial 605021
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338, NON SYNDROMAL HEARING LOSS
R-numbers: R67
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 86, 614617, Deafness, autosomal dominant 65, 616044, DOORS syndrome, 220500, deafness, onychodystrophy, osteodystrophy, and mental retardation