SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743, Autosomal recessive ataxia, Beauce type, MONDO:0012549
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 4.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998, Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743, Autosomal recessive ataxia, Beauce type, MONDO:0012549
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.32
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998