Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SYNE1
>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
Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.
Distal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.Created: 22 Feb 2020, 7:12 a.m. | Last Modified: 22 Feb 2020, 7:12 a.m.
Panel Version: 0.1418
Single family reported with homozygous variants and autism in multiple individuals, offspring of consanguineous parents.Created: 23 Nov 2019, 10 a.m. | Last Modified: 23 Nov 2019, 10 a.m.
Panel Version: 0.4
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; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Publications
gene: SYNE1 was added gene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998