SYNE1

spectrin repeat containing nuclear envelope protein 1
OMIM: 608441
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
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 2.2
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 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive spinocerebellar ataxia type 8
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998