Gene Symbol:
TCTN3
HGNC:24519
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q24.1
Filters:

Definitive classifications

orofaciodigital syndrome IV
Submitted as: OMIM:258860
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

orofaciodigital syndrome IV
Submitted as: OMIM:258860
AR
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
Joubert syndrome 18
Submitted as: OMIM:614815
AR
04/09/2020
Evaluated
11/30/2023
Submitted
orofaciodigital syndrome IV
Submitted as: OMIM:258860
AR
10/25/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Meckel syndrome
Submitted as: Orphanet:564
AR
09/14/2021
Evaluated
09/14/2021
Submitted
orofaciodigital syndrome IV
Submitted as: Orphanet:2753
AR
09/14/2021
Evaluated
09/14/2021
Submitted
orofaciodigital syndrome type 6
Submitted as: Orphanet:2754
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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