FANCL

Green FANCL in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 1.18

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

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 1.69

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 1.32

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Fanconi anemia, complementation group L, 614083
• Fanconi Anemia
• Fanconi Anaemia

Green FANCL in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• IUIS Classification December 2019
• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group L, 614083

Green FANCL in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Radial Ray abnormality
• Fanconi anemia, complementation group L, 614083

Green FANCL in Pigmentary skin disorders

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert Review

Phenotypes

• FANCONI ANEMIA, COMPLEMENTATION GROUP L
• FANCL

Green FANCL in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Green
• Expert list
• UKGTN
• Illumina TruGenome Clinical Sequencing Services

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 1.27

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 2.29
Latest signed off version: v2.2 (18 Feb 2020)

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

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 5.7
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Other
• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group L, 614083

Green FANCL in Confirmed Fanconi anaemia or Bloom syndrome

Version 2.6
Latest signed off version: v2.5 (1 May 2024)

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

Green FANCL in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• Fanconi anemia, complementation group L, OMIM:614083
• Fanconi anemia complementation group L, MONDO:0013566

Green FANCL in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

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 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert list
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Fanconi anemia, complementation group L, 614083

Green FANCL in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group L, OMIM:614083

Amber FANCL in Structural eye disease

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Amber
• London North GLH

Phenotypes

• Fanconi Anemia, Complementation Group L, FANCL, 614083

Green FANCL in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Fanconi anemia, complementation group L, 614083