SYNE2

spectrin repeat containing nuclear envelope protein 2
OMIM: 608442, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red SYNE2 in Mendeliome


Version 1.3499

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999
  • Neurodevelopmental disorder, MONDO:0700092, SYNE2 related
Tags
  • disputed

Red SYNE2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.398

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SYNE2 related