SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441
PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 4.1
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 3.1
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
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998, complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743
R-numbers: R54
Signed-off version 3.1
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
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998