Gene Symbol:
TIMM8A
HGNC:11817
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq22.1
Filters:

Ambry Genetics classifications

deafness dystonia syndrome
Submitted as: OMIM:304700
XL
08/31/2018
Evaluated
09/28/2021
Submitted

ClinGen classifications

deafness dystonia syndrome
XL
12/19/2017
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

deafness dystonia syndrome
Submitted as: OMIM:304700
XL
02/18/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

deafness dystonia syndrome
Submitted as: OMIM:304700
XL
10/24/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

deafness dystonia syndrome
Submitted as: Orphanet:52368
XL
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

deafness dystonia syndrome
Submitted as: OMIM:304700
XL
10/09/2020
Evaluated
11/09/2020
Submitted

G2P classifications

deafness dystonia syndrome
Submitted as: OMIM:304700
XL
08/31/2017
Evaluated
09/11/2023
Submitted

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