Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18
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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 I, 609053
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Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.12
|
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
|
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 I, 609053
- 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 I, 609053
- Fanconi Anemia
- Fanconi Anaemia
|
Level 2: Viral research
Version 1.130
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group I, 609053
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type I
- 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 Anaemia
- Fanconi Anemia
- Fanconi anemia, complementation group I, 609053
|
Version 2.79
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 I, 609053
- 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
- FANCI
- FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
Version 2.572
Latest signed off version: v2.1
(24 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group I, 609053
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type I
- 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
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Fanconi Anemia
- Fanconi anemia, complementation group I, 609053
|
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)
- 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
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2
(2 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- Fanconi anemia, complementation group I, 609053
|
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, complementation group I, 609053
- Fanconi Anemia
- 609053 Fanconi anemia, complementation group I
|
Version 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FANCI-RELATED FANCONI ANEMIA
- FANCONI ANEMIA
|
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
- FANCI-RELATED FANCONI ANEMIA 234476
- FANCONI ANEMIA 229154
|
Version 1.109
Latest signed off version: v1.4
(3 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fanconi anemia
- Fanconi anemia, complementation group I, 609053
- 609053 Fanconi anemia, complementation group I
- Fanconi Anemia
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
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 I, 609053
|
Version 1.132
Latest signed off version: v1.3
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Fanconi Anemia, Complementation Group I, FANCI, 609053
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fanconi anemia, complementation group I, 609053
|