Muscular dystrophy and myopathy_Paediatric
Gene: SYNE1
Congenital onset described in at least two families with bi-allelic variants.Created: 24 Jun 2020, 12:29 a.m. | Last Modified: 24 Jun 2020, 12:33 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Publications
>3 unrelated cases
Sources: Expert ReviewCreated: 24 Feb 2020, 10:01 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998
Publications
Biallelic loss-of-function well reported in patients with ataxia.Created: 20 Feb 2020, 11:08 p.m. | Last Modified: 20 Feb 2020, 11:08 p.m.
Panel Version: 0.1415
Phenotypes
Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743)
Publications
Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: syne1 has been classified as Green List (High Evidence).
Phenotypes for gene: SYNE1 were changed from to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Publications for gene: SYNE1 were set to
Mode of inheritance for gene: SYNE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: SYNE1 was added gene: SYNE1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SYNE1 was set to Unknown