Gene Symbol:
TBC1D24
HGNC:29203
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Autosomal dominant nonsyndromic hearing loss classifications

autosomal dominant nonsyndromic hearing loss
Submitted as: Orphanet:90635
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal dominant nonsyndromic hearing loss 65 classifications

autosomal dominant nonsyndromic hearing loss 65
Submitted as: OMIM:616044
AD
06/03/2021
Evaluated
11/30/2023
Submitted

Autosomal recessive nonsyndromic hearing loss 86 classifications

autosomal recessive nonsyndromic hearing loss 86
Submitted as: OMIM:614617
AR
07/22/2015
Evaluated
11/25/2020
Submitted
autosomal recessive nonsyndromic hearing loss 86
Submitted as: OMIM:614617
AR
10/22/2020
Evaluated
09/28/2021
Submitted

DOORS syndrome classifications

DOORS syndrome
Submitted as: OMIM:220500
AR
07/22/2015
Evaluated
09/11/2023
Submitted
AR
09/14/2021
Evaluated
09/14/2021
Submitted
DOORS syndrome
Submitted as: OMIM:220500
AR
09/21/2016
Evaluated
09/28/2021
Submitted
DOORS syndrome
Submitted as: OMIM:220500
AR
12/14/2018
Evaluated
11/30/2023
Submitted

Familial infantile myoclonic epilepsy classifications

familial infantile myoclonic epilepsy
Submitted as: OMIM:605021
AR
07/22/2015
Evaluated
09/11/2023
Submitted
familial infantile myoclonic epilepsy
Submitted as: Orphanet:352582
AR
09/14/2021
Evaluated
09/14/2021
Submitted
familial infantile myoclonic epilepsy
Submitted as: OMIM:605021
AR
09/21/2016
Evaluated
09/28/2021
Submitted

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation classifications

focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Submitted as: Orphanet:352587
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Hearing loss, autosomal recessive classifications

hearing loss, autosomal recessive
Submitted as: Orphanet:90636
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Malignant migrating partial seizures of infancy classifications

malignant migrating partial seizures of infancy
Submitted as: Orphanet:293181
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Nonsyndromic genetic hearing loss classifications

nonsyndromic genetic hearing loss
AD
07/26/2022
Evaluated
04/21/2024
Submitted

Progressive myoclonic epilepsy with dystonia classifications

progressive myoclonic epilepsy with dystonia
Submitted as: Orphanet:352596
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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