SPEN

spen family transcriptional repressor
OMIM: 613484, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SPEN in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radio-Tartaglia syndrome MIM#619312

Green SPEN in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.510

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radio-Tartaglia syndrome MIM#619312

Green SPEN in Mendeliome


Version 1.3795

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radio-Tartaglia syndrome, MIM# 619312
  • Intellectual disability
  • autism
  • congenital anomalies

Amber SPEN in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 5 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Radio-Tartaglia syndrome MIM#619312

    Amber SPEN in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.304

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Radio-Tartaglia syndrome MIM#619312

    Green SPEN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Radio-Tartaglia syndrome, MIM# 619312
    • Intellectual disability
    • autism
    • congenital anomalies

    Green SPEN in Fetal anomalies


    Version 1.481

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Radio-Tartaglia syndrome - MIM#619312