Description
Non-Fanconi anaemia inclusion criteria (29383)
- Patients referred for Fanconi anaemia chromosome breakage testing, but who are negative for elevated chromosome breakage with mitomycin C/diepoxybutane
- Patients with two or more of the following clinical features which overlap with Fanconi:
  - Skin: hyperpigmentation; Cafe au lait spots; Hypopigmentation
  - Microsomia: short stature
  - Upper limbs: Absent/hypoplastic thumbs or radii
  - Head and face: Microcephaly; micrognathia
  - Hypogenitalia in males or females
  - Renal: Ectopic or pelvic; abnormal, horseshoe
  - Haematology: Unexplained cytopenia

Non-Fanconi anaemia exclusion criteria (29383)
- Patients referred for Fanconi anaemia chromosome breakage testing, who are positive for elevated chromosome breakage with mitomycin C/diepoxybutane.

Prior genetic testing guidance (29383)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Non-Fanconi anaemia Gene (29383)
- chromosome breakage analysis with mitomycin C/diepoxybutane

Closing statement (29383)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Helen Lindsay (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Mark Greenslade (Bristol Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Kenneth Smith (Clinical scientist within SWGMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

133 Entities

130 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
133 Entitiess
Green Green List (high evidence)
ALAS2
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, X-linked, 300751
  • Sideroblastic Anemia and Ataxia
  • Sideroblastic anaemia
Tags
Green Green List (high evidence)
BRCA2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
Tags
Green Green List (high evidence)
BRIP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group J, 609054
Tags
Green Green List (high evidence)
CDAN1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type Ia, 224120
Tags
Green Green List (high evidence)
CUBN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Finnish type, 261100
  • Megaloblastic Anemia
Tags
Green Green List (high evidence)
ERCC4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Tags
Green Green List (high evidence)
FANCA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCB
3 reviews
3 green
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • VACTERL Association with Hydrocephalus
Tags
Green Green List (high evidence)
FANCC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCD2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCE
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCF
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group F, 603467
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCG
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group G, 614082
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCI
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
  • Fanconi anemia
Tags
Green Green List (high evidence)
FANCL
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
  • Fanconi anemia
Tags
Green Green List (high evidence)
G6PD
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • congenital nonspherocytic hemolytic anemia
  • nonspherocytic hemolytic anemia due to G6PD deficiency
  • Favism, 134700
Tags
Green Green List (high evidence)
GATA1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
  • Thrombocytopenia with beta-thalassemia, X-linked, 314050 (includes variable Hemolytic anemia)
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Tags
Green Green List (high evidence)
KLF1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type IV, 613673
Tags
Green Green List (high evidence)
PALB2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group N, 610832
Tags
Green Green List (high evidence)
RPL11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 7, 612562
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPL35A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPL5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 6, 612561
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS10
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 9, 613308
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS17
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS19
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS24
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-blackfan anemia 3, 610629
Tags
Green Green List (high evidence)
RPS26
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS7
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
SEC23B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type II, 224100
Tags
Green Green List (high evidence)
SLC11A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypochromic Microcytic Anemia with Iron Overload
  • Anemia, hypochromic microcytic, with iron overload 1, 206100
  • Microcytic anemia and hepatic iron overload
Tags
Green Green List (high evidence)
SLC19A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
Tags
Green Green List (high evidence)
SLC25A38
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Hereditary Sideroblastic Anemia
  • Sideroblastic anaemia
Tags
Green Green List (high evidence)
SLX4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group P, 613951
Tags
Green Green List (high evidence)
TMPRSS6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Iron-refractory iron deficiency anemia, 206200
Tags
Amber Amber List (moderate evidence)
ABCB7
2 reviews
2 red
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
Tags
Amber Amber List (moderate evidence)
BAAT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholanemia, familial, 607748
  • Hypercholanemia
Tags
Amber Amber List (moderate evidence)
COX4I2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Tags
Amber Amber List (moderate evidence)
HOXD13
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Synpolydactyly, type II, 186000
Tags
  • nucleotide-repeat-expansion
Amber Amber List (moderate evidence)
PUS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
  • Mitochondrialmyopathyandsideroblasticanemia1,600462
Tags
Amber Amber List (moderate evidence)
RAD51C
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group O, 613390
Tags
  • watchlist
Amber Amber List (moderate evidence)
TERT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Aplastic Anemia
Tags
Amber Amber List (moderate evidence)
XRCC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Fanconi Anaemia
Tags
Amber Amber List (moderate evidence)
YARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
  • Myopathy,lacticacidosis,andsideroblasticanemia2,613561
Tags
Amber Amber List (moderate evidence)
ZIC3
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • VACTERL Association, X-linked
  • Heterotaxy, visceral, 1, X-linked 306955
Tags
Red Red List (low evidence)
AK1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Tags
Red Red List (low evidence)
AMN
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
Tags
Red Red List (low evidence)
ARHGAP31
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
BMP2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
BMPR1B
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
BRCA1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
C15orf41
1 review
Not set
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital Anaemia
  • Congenital Dyserythropoietic Anemia
Tags
Red Red List (low evidence)
CC2D2A
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
CD59
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Tags
Red Red List (low evidence)
CDH3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
CEP290
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
CHSY1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
DHFR
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
Red Red List (low evidence)
DKC1
2 reviews
2 green
Not set
Sources
  • UKGTN
Phenotypes
  • DYSKERATOSIS CONGENITA, X-LINKED
Tags
Red Red List (low evidence)
EPHX1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Tags
Red Red List (low evidence)
ERCC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
ESCO2
2 reviews
2 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FANCM
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia
Tags
Red Red List (low evidence)
FBLN1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FBXW4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FGF10
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FGFR2
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FGFR3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
FMN1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
GCLC
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446
Tags
Red Red List (low evidence)
GDF5
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
GLI3
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
GLRX5
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Tags
Red Red List (low evidence)
GNAS
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
GPI
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
Tags
Red Red List (low evidence)
GPX1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione peroxidase deficiency, 614164
Tags
Red Red List (low evidence)
GREM1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
GSS
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130
Tags
Red Red List (low evidence)
HBA1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978
Tags
Red Red List (low evidence)
HBA2
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978
Tags
Red Red List (low evidence)
HBB
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sicklecellanemia,603903
  • Thalassemias,beta ,613985
  • Erythremias,beta
  • Methemoglobinemias,beta
  • Heinzbodyanemias,beta,140700
  • Thalassemia beta,dominant inclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162
  • Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162
Tags
Red Red List (low evidence)
HBD
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,delta ThalassemiaduetoHbLepore
Tags
Red Red List (low evidence)
HDAC4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
HEPH
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • Iron Deficiency anaemia.
Tags
Red Red List (low evidence)
HK1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285
Tags
Red Red List (low evidence)
IFNG
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aplastic Anemia
Tags
Red Red List (low evidence)
IHH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
KIF23
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • DYSERYTHOPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
LMBR1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
LRP4
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
MGP
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
MKS1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
MTR
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red Red List (low evidence)
MTRR
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red Red List (low evidence)
MYCN
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
NHP2
1 review
1 red
Not set
Sources
  • UKGTN
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2
Tags
Red Red List (low evidence)
NIPBL
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
NOG
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
NOP10
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
Tags
Red Red List (low evidence)
NT5C3A
0 reviews
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
PIGV
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
PITX1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
PKLR
1 review
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
PTEN
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 1, 158350
  • Lhermitte-Duclos syndrome, 158350
  • Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174
  • {Glioma susceptibility 2}, 613028
  • Macrocephaly/autism syndrome, 605309
  • PTEN hamartoma tumor syndrome
  • VATER association with macrocephaly and ventriculomegaly, 276950
  • {Prostate cancer, somatic}, 176807
  • Thyroid carcinoma, follicular, somatic, 188470
  • Malignant melanoma, somatic, 155600
  • Endometrial carcinoma, somatic, 608089
  • Squamous cell carcinoma, head and neck, somatic, 275355
Tags
Red Red List (low evidence)
PTHLH
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
RECQL4
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
RHAG
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome
Tags
Red Red List (low evidence)
ROR2
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
RPGRIP1L
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
RPL19
1 review
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
RPL26
1 review
Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPL27
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Diamond-Blackfan anemia 16, 617408
Tags
Red Red List (low evidence)
RPL9
1 review
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
RPS14
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3
Tags
Red Red List (low evidence)
RPS27
2 reviews
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Diamond-Blackfan anemia 17, 617409
Tags
Red Red List (low evidence)
RPS29
1 review
1 green
Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
SALL1
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
SALL4
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
SBDS
1 review
1 green
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
SLC4A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic Anemia
Tags
Red Red List (low evidence)
SOX9
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TBX15
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TBX3
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TBX5
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TERC
2 reviews
1 green
Not set
Sources
  • UKGTN
Tags
  • locus-type-rna-misc
Red Red List (low evidence)
TF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Tags
Red Red List (low evidence)
THPO
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TINF2
1 review
1 green
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
TP63
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
TPI1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency
Tags
Red Red List (low evidence)
WNT3
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags
Red Red List (low evidence)
WNT7A
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Limb Malformation
Tags

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