FBRSL1

fibrosin like 1
Gene2Phenotype

3 panels

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


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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 Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital heart defect
  • Congenital malformations
Tags
  • gene-checked
Green FBRSL1 in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

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