Genomics England

TBC1D24

TBC1 domain family member 24

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105, Developmental and epileptic encephalopathy 16, OMIM:615338
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DOORS SYNDROME 220500, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021, NON SYNDROMAL HEARING LOSS 614617
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 16 615338, Myoclonic epilepsy, infantile, familial 605021
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, DOORS SYNDROME, NON SYNDROMAL HEARING LOSS
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338, NON SYNDROMAL HEARING LOSS
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.51	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