FBRSL1

fibrosin like 1
Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber FBRSL1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Malformation and intellectual disability syndrome

Green FBRSL1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic disease MONDO:0002254, FBRSL1-related
  • Malformation and intellectual disability syndrome

Green FBRSL1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Malformation and intellectual disability syndrome

Amber FBRSL1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.213

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Malformation and intellectual disability syndrome

Green FBRSL1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Malformation and intellectual disability syndrome

Amber FBRSL1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Malformation and intellectual disability syndrome
  • Cleft palate

Green FBRSL1 in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital malformations
  • congenital heart defect