1. Genes and Genomic Entities
  2. RSRC1

RSRC1

arginine and serine rich coiled-coil 1
OMIM: 613352, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RSRC1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
    Green RSRC1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 70 618402