TBC1D24

TBC1 domain family member 24
OMIM: 613577, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TBC1D24 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL DOORS SYNDROME NON SYNDROMAL HEARING LOSS
Green TBC1D24 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DOORS SYNDROME 220500 MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 NON SYNDROMAL HEARING LOSS 614617
Green TBC1D24 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 DOORS syndrome, 220500 deafness, onychodystrophy, osteodystrophy, and mental retardation
Green TBC1D24 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert Phenotypes DOORS syndrome 220500 Epileptic encephalopathy, early infantile, 16 615338 Myoclonic epilepsy, infantile, familial 605021
Green TBC1D24 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338 NON SYNDROMAL HEARING LOSS
Amber TBC1D24 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, OMIM:608105 Developmental and epileptic encephalopathy 16, OMIM:615338 Tags Q3_23_promote_green
Green TBC1D24 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes DOORS syndrome, 220500 Deafness , autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 Epileptic encephalopathy, early infantile, 16, 615338 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 Myoclonic epilepsy, infantile, familial, 605021