Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24
|
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 G, 614082
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: BM failure FA, (typ AR)
- AML
- leukaemia
- Fanconi anaemia G
- 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 1.59
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review
- Expert review
- Expert Review Green
- Literature
Phenotypes
- pre- and postnatal growth retardation
- malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
- a typical facial appearance with small head, eyes, and mouth
- hearing loss
- hypogonadism and reduced fertility
- cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
- bone marrow failure
- and susceptibility to cancer, predominantly acute myeloid leukemia.
- Fanconi Anemia
- Fanconi anemia, complementation group G, 614082
- Fanconi anemia
- Fanconi anemia complementation group G
|
Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.32
|
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 G, 614082
- Fanconi Anemia
- Fanconi Anaemia
|
Level 2: Viral research
Version 1.141
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2019
- Expert Review Green
Phenotypes
- Fanconi anemia, complementation group G, 614082
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Fanconi anemia, complementation group G 614082
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
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 G, 614082
- Fanconi Anaemia
- Fanconi Anemia
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Radial Ray abnormality
- Fanconi anemia, complementation group G, 614082
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- FANCG
- FANCONI ANEMIA, COMPLEMENTATION GROUP G
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Fanconi Anemia
- Fanconi anemia, complementation group G, 614082
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
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 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: BM failure FA, (typ AR)
- AML
- leukaemia
- Fanconi anaemia G
- 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 4.67
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Other
- Expert Review Green
Phenotypes
- Fanconi anemia, complementation group G, 614082
|
Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
|
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
- 614082 Fanconi anemia, complementation group G
- Fanconi anemia, complementation group G, 614082
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP G
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082
|
Version 3.88
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fanconi anemia, complementation group G, OMIM:614082
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Fanconi anemia, complementation group G, 614082
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fanconi anemia, complementation group G, 614082
|