Gene Symbol:
SYNE1
HGNC:17089
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q25.2
Filters:

Definitive classifications

autosomal recessive ataxia, Beauce type
Submitted as: OMIM:610743
AR
07/17/2017
Evaluated
09/28/2021
Submitted

Strong classifications

autosomal recessive ataxia, Beauce type
Submitted as: OMIM:610743
AR
04/22/2020
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
autosomal recessive ataxia, Beauce type
Submitted as: OMIM:610743
AR
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal recessive ataxia, Beauce type
Submitted as: OMIM:610743
AR
09/15/2022
Evaluated
11/30/2023
Submitted
arthrogryposis multiplex congenita 3, myogenic type
Submitted as: OMIM:618484
AR
06/28/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Submitted as: OMIM:612998
AD
01/17/2017
Evaluated
09/28/2021
Submitted

Supportive classifications

autosomal recessive ataxia, Beauce type
Submitted as: Orphanet:88644
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant Emery-Dreifuss muscular dystrophy
Submitted as: Orphanet:98853
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive myogenic arthrogryposis multiplex congenita
Submitted as: Orphanet:319332
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
AD
06/18/2021
Evaluated
10/27/2022
Submitted
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Submitted as: OMIM:612998
AD
07/11/2017
Evaluated
11/30/2023
Submitted

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