LARP7

La ribonucleoprotein domain family member 7
OMIM: 612026, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green LARP7 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alazami syndrome, 615071 (Microcephaly and short stature)
  • Primordial dwarfism

Green LARP7 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALAZAMI SYNDROME

Green LARP7 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALAZAMI SYNDROME 615071

    Green LARP7 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alazami syndrome, 615071
    • ALAZAMI SYNDROME