1. Genes and Genomic Entities
  2. IQSEC1

IQSEC1

IQ motif and Sec7 domain 1
OMIM: 610166, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green IQSEC1 in DDG2P


Version 3.88
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 Disability, Developmental Delay, and Short Stature
    Amber IQSEC1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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 Amber
    • Literature
    Phenotypes
    • Central hypotonia
    • Global developmental delay
    • Intellectual disability
    • Behavioral abnormality
    • Short stature
    • Intellectual developmental disorder with short stature and behavioral abnormalities, 618687
    Tags
    • watchlist