1. Genes and Genomic Entities
  2. FBRSL1

FBRSL1

fibrosin like 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green FBRSL1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Heart defect
  • Cleft palate
  • Contractures
  • Hearing impairment
  • Skin creases
Tags
  • gene-checked
Green FBRSL1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Microcephaly
    • Heart defect
    • Cleft palate
    • Contractures
    • Hearing impairment
    • Skin creases
    Tags
    • gene-checked