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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOORS SYNDROME 220500, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021, NON SYNDROMAL HEARING LOSS 614617
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, DOORS SYNDROME, NON SYNDROMAL HEARING LOSS
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 16 615338, Myoclonic epilepsy, infantile, familial 605021
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
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
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
Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338, NON SYNDROMAL HEARING LOSS