FANCL

Fanconi anemia complementation group L
OMIM: 608111, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green FANCL in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi anemia, complementation group L, 614083

Green FANCL in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Bone marrow failure
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar

Green FANCL in Head and neck cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Head and neck cancer

Green FANCL in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
  • Fanconi anemia

Green FANCL in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anemia
  • Fanconi Anaemia

Green FANCL in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anaemia
  • Fanconi Anemia

Green FANCL in Limb disorders


Version 1.61

Component of the following Super Panels:

  • Paediatric disorders v4.364
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radial Ray abnormality
    • Fanconi anemia, complementation group L, 614083

    Green FANCL in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.73

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    Phenotypes
    • Fanconi Anemia
    • Fanconi anemia, complementation group L, 614083

    Green FANCL in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi Anemia

    Green FANCL in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.7

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi Anemia

    Green FANCL in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure FA, (typ AR)
    • Fanconi anemia
    • MDS
    • AML
    • Bone marrow failure
    • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar

    Green FANCL 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
    • Other
    Phenotypes
    • Fanconi anemia, complementation group L, 614083

    Green FANCL in Confirmed Fanconi anaemia or Bloom syndrome


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Fanconi Anemia
    • Fanconi anemia, complementation group L, 614083
    • 614083Fanconi anemia, complementation group L

    Amber FANCL in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FANCL-RELATED FANCONI ANEMIA
    • FANCONI ANEMIA

    Amber FANCL in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.364
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • FANCL-RELATED FANCONI ANEMIA 234480
    • FANCONI ANEMIA 229154

    Red FANCL in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.59

    Component of the following Super Panels:

  • Paediatric disorders v4.364
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Fanconi anemia, complementation group L, 614083

    Green FANCL in Growth failure in early childhood


    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi anemia
    • Fanconi anemia, complementation group L, 614083
    • 614083Fanconi anemia, complementation group L
    • Fanconi Anemia

    Amber FANCL in Structural eye disease


    Version 0.95

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • London North GLH
    Phenotypes
    • Fanconi Anemia, Complementation Group L, FANCL, 614083