SELENOI

selenoprotein I
OMIM: 607915, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SELENOI in Mendeliome


Version 1.4601

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 81, autosomal recessive, MIM# 618768

Green SELENOI in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.421

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 81, autosomal recessive, MIM# 618768

Green SELENOI in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia 81, autosomal recessive, MIM# 618768

    Green SELENOI in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.709

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 81, autosomal recessive, MIM# 618768

    Green SELENOI in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.149

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 81, autosomal recessive 618768

    Red SELENOI in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.312

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia 81, autosomal recessive, MIM# 618768