Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18
|
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 F, 603467
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.12
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: BM failure FA, (typ AR)
- AML
- leukaemia
- Fanconi anaemia F
- MDS
- AML, Leukaemia
- Bone marrow failure
- Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
|
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
|
Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.53
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert review
Phenotypes
- Fanconi Anemia
- Fanconi anemia, complementation group F, 603467
- Fanconi anemia
|
Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Fanconi anemia, complementation group F, 603467
- Fanconi Anemia
- Fanconi Anaemia
|
Level 2: Viral research
Version 1.129
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- IUIS Classification December 2019
Phenotypes
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi anemia, complementation group F, 603467
- Fanconi Anemia Type F
- Bone marrow failure
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.33
Latest signed off version: v2.5
(4 Mar 2020)
|
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 F, 603467
- Fanconi Anaemia
- Fanconi Anemia
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group F, 603467
- Radial Ray abnormality
|
Version 1.50
Latest signed off version: v1.4
(15 Oct 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP F
- FANCF
|
Version 2.557
Latest signed off version: v2.1
(24 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2019
Phenotypes
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type F
- Fanconi anemia, complementation group F, 603467
- Bone marrow failure
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
Phenotypes
- Fanconi Anemia
- Fanconi anemia, complementation group F, 603467
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.20
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.34
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: BM failure FA, (typ AR)
- AML
- leukaemia
- Fanconi anaemia F
- MDS
- AML, Leukaemia
- Bone marrow failure
- Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.306
Latest signed off version: v2.2
(2 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Other
- Expert Review Green
Phenotypes
- Fanconi anemia, complementation group F, 603467
|
Version 1.16
Latest signed off version: v1.7
(15 Oct 2020)
|
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
- 603467 Fanconi anemia, complementation group F
- Fanconi anemia, complementation group F, 603467
|
Version 1.873
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP F
|
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467
|
Version 1.105
Latest signed off version: v1.4
(3 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fanconi anemia
- Fanconi anemia, complementation group F, 603467
- 603467 Fanconi anemia, complementation group F
- Fanconi Anemia
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1623
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Fanconi anemia, complementation group F, 603467
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fanconi anemia, complementation group F, 603467
|