Description
Inclusion criteria

Aplastic anaemia
• Bi-cytopenia or pancytopenia: at least 2 of 3 following: Hb <10g/dl, platelet count < 50 x 109/l, neutrophil count < 1.5 x 109/l, AND
• Hypocellular bone marrow biopsy, AND
• Normal MMC/DEB-induced (Fanconi anaemia)chromosome breakage result, AND
• All cases must be discussed and approved by the aplastic anaemia/myeloid MDT at the recruiting GMC

Paroxysmal nocturnal haemoglobinuria (PNH)
• Presence of PNH clone by flow cytometry, AND
• All cases must be discussed and approved by the PNH/aplastic anaemia/myeloid MDT at the recruiting GMC

Exclusion criteria

Aplastic anaemia
• Abnormal infiltrate or fibrosis in bone marrow
• B12 or folate deficiency
• Known genetic cause already identified in proband or family member

Paroxysmal nocturnal haemoglobinuria
• Absence of PNH clone by flow cytometry

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: consideration of DKC1, PIGA, TERC, TERT, SBDS

These requirements will be kept under continual review during the main programme and may be subject to change.

1 reviewer

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

57 Entities

4 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green Green List (high evidence)
SRP72
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Bone Marrow Failure, Familial
  • Bone marrow failure, familial, 614675
  • Familial Bone Marrow Failure
  • Familial MDS (Myelodysplastic syndromes)
Tags
Green Green List (high evidence)
TERT
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Aplastic Anemia
  • {Bone marrow failure, telomere-related, 1}, 614742
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • {Coronary artery disease}
  • {Pulmonary fibrosis, telomere-related, 1}, 614742
  • {Leukemia, acute myeloid}, 601626
  • {Melanoma, cutaneous malignant, 9}, 615134
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Telomere‐Related Pulmonary Fibrosis And/Or Bone Marrow Failure‐1
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
TINF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Revesz Syndrome
  • Dyskeratosis congenita, autosomal dominant 3, 613990
  • Revesz syndrome, 268130
  • Revesz Syndrome
  • Dyskeratosis congenita
Tags
Amber Amber List (moderate evidence)
SBDS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Shwachman_Diamond Syndrome
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman Diamond syndrome (SDS)
Tags
Red Red List (low evidence)
ANKRD26
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Congenital amegkaryocytic thrombocytopenia
Tags
Red Red List (low evidence)
BRCA2
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
BRIP1
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
CEBPA
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
CSF3R
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Severe congenital neutropenic
Tags
Red Red List (low evidence)
CTC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
CXCR4
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • WHIM sydrome
Tags
Red Red List (low evidence)
DKC1
0 reviews
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 list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
ELANE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Cyclic Neutropenia (AD)
  • Neutropenia, Severe Congital 1, Autosomal Dominant
  • Severe congenital neutropenic
Tags
Red Red List (low evidence)
ERCC6L2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bone marrow failure syndrome 2, 615715 (3)
Tags
Red Red List (low evidence)
FANCA
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCB
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCC
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCD2
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCE
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCF
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCG
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCI
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCL
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
FANCM
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
G6PC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
Tags
Red Red List (low evidence)
GATA1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
GATA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
GFI1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
Tags
Red Red List (low evidence)
HAX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
Tags
Red Red List (low evidence)
HOXA11
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Congenital amegkaryocytic thrombocytopenia
Tags
Red Red List (low evidence)
IFNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aplastic Anemia
Tags
Red Red List (low evidence)
MPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
Tags
Red Red List (low evidence)
NBN
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aplastic anemia, 609135
  • Leukemia, acute lymphoblastic, 613065
  • Nijmegen breakage syndrome, 251260
Tags
Red Red List (low evidence)
NHP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
NOP10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
PALB2
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
PIGA
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
Tags
Red Red List (low evidence)
PIGT
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
  • ?Paroxysmal nocturnal hemoglobinuria 2, 615399
Tags
Red Red List (low evidence)
RAD51C
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
RPL11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPL26
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPL35A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS17
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS19
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS24
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS29
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RPS7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Red Red List (low evidence)
RTEL1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Dyskeratosis Congenita, Autosomal Dominant, 4
  • Dyskeratosis Congenita, Autosomal Recessive, 5
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
RUNX1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
SLX4
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
TERC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
  • Dyskeratosis congenita
Tags
  • locus-type-rna-misc
Red Red List (low evidence)
USB1
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
WAS
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Wiskot Aldrich syndrome
Tags
Red Red List (low evidence)
WRAP53
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
Tags

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