Non-Fanconi anaemia (Version 0.335)

This Panel is marked as Internal

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.

Panel Activity

7 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
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

133 Entities

130 reviewed, 34 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Green 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 list Expert Review Amber 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	2 reviews	Not set	Sources Eligibility statement prior genetic testing UKGTN Phenotypes Congenital Anaemia Congenital Dyserythropoietic Anemia Tags new-gene-name
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 list Expert Review Red 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

Non-Fanconi anaemia (Version 0.335)

7 reviewers

133 Entities

130 reviewed, 34 green

3 reviews

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Phenotypes

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4 reviews

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Phenotypes

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4 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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4 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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3 reviews

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Phenotypes

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4 reviews

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Phenotypes

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