Description
This panel is used for clinical indication 'R91 Cytopenia - NOT Fanconi anaemia'  and 'R258 Cytopenia - Fanconi breakage testing indicated' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R91 Cytopenia - NOT Fanconi anaemia' and 'R258 Cytopenia - Fanconi breakage testing indicated'

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/519/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (12/11/2019).
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

5 reviewers

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Steve Keeney (Central Manchester Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Frances Smith (King's College Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

119 Entities

119 reviewed, 55 green

List Entity Reviews Mode of inheritance Details
119 Entitiess
Green Green List (high evidence)
ACD
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616553 ?Dyskeratosis congenita 6 and 7
Tags
Green Green List (high evidence)
ADA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond Blackfan anaemia
  • 615688 Polyarteritis nodosa/Sneddon sydrome
Tags
Green Green List (high evidence)
ANKRD26
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Thrombocytopenia 2, 188000
Tags
Green Green List (high evidence)
CSF3R
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
  • 617014 Neutropenia, severe congenital, 7
  • 617014 Neutropenia, severe congenital, 7, autosomal recessive
  • Severe congenital neutropenia
Tags
Green Green List (high evidence)
CTC1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
  • Dyskeratosis Congenita, Recessive
  • Inherited Bone Marrow Failure Syndromes
  • 612199 Coats plus syndrome
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
CXCR4
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
  • 193670 WHIM syndrome
  • WHIM syndrome, 193670
  • Severe congenital neutropenia
Tags
Green Green List (high evidence)
CYCS
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Thrombocytopenia 4, 612004
  • Thrombocytopenia
Tags
Green Green List (high evidence)
DKC1
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
  • 305000 Dyskeratosis congenita
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
DNAJC21
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Pancytopaenia
  • Bone Marrow Failure
  • 617052 Bone marrow failure syndrome 3
  • Bone marrow failure syndrome 3, 617052
Tags
Green Green List (high evidence)
ELANE
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant 202700
  • 202700 Neutropenia, severe congenital 1
  • 202700 Neutropenia, severe congenital 1, autosomal dominant
  • Neutropenia, cyclic 162800
  • 162800 Cyclic neutropenia
  • 162800 Neutropenia, cyclic
Tags
Green Green List (high evidence)
ERCC6L2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 615715 Bone marrow failure syndrome 2
  • Bone marrow failure syndrome 2, 615715
Tags
Green Green List (high evidence)
ETV6
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616216 Thrombocytopenia 5
Tags
Green Green List (high evidence)
FYB1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 273900 Thrombocytopenia 3
  • Thrombocytopenia 3, 273900
Tags
Green Green List (high evidence)
G6PC3
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dursun syndrome, 612541
  • Severe congenital neutropenic
  • 612541 Neutropenia, severe congenital 4, autosomal recessive
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Neutropenia, Severe Congenital, 4 Autosomal Dominant
  • 612541 Neutropenia, severe congenital 4
  • Severe Congenital Neutropenia
Tags
Green Green List (high evidence)
GATA1
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 314050 Thrombocytopenia with beta-thalassemia, X-linked
  • Diamond Blackfan Anaemia
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
  • Myelodysplastic syndrome (MDS), Paediatric
  • Anaemia
  • thrombocytopenia
Tags
Green Green List (high evidence)
GATA2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Congenital dyserythropoietic anemia (CDA)
  • Myelodysplastic Syndrome
  • Familial MDS (Myelodysplastic syndromes)
  • Leukemia, Acute Myeloid
  • {Leukemia, acute myeloid, susceptibility to}, 601626
  • Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
  • {Myelodysplastic syndrome, susceptibility to}, 614286
  • Primary Lymphedema with Myelodysplasia
  • Lymphedema, Primary, With Myelodysplasia
  • Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
  • 614038 Emberger syndrome
  • Immunodeficiency 21
  • Emberger syndrome, 614038 (includes pancytopenia)
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
Tags
Green Green List (high evidence)
GFI1
5 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 613107 Neutropenia, severe congenital 2
  • Severe congenital neutropenic
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Neutropenia, Severe Congenital, 2 Autosomal Dominant
  • Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
  • Neutropenia, severe congenital 2, autosomal dominant, 613107
  • 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults
Tags
Green Green List (high evidence)
HAX1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
  • Severe congenital neutropenic
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • 610738 Neutropenia, severe congenital 3, autosomal recessive
  • 610738 Neutropenia, severe congenital 3
  • Neutropenia, Severe Congenital, 3 Autosomal Dominant
Tags
Green Green List (high evidence)
JAGN1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616022 Neutropenia, severe congenital, 6
  • 616022 Neutropenia, severe congenital, 6, autosomal recessive
Tags
Green Green List (high evidence)
KIF23
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • CDA III
  • Congenital dyserythropoietic anemia (CDA)
  • Congenital dyserythropoietic anemia type III
  • Enzyme Disorder
Tags
Green Green List (high evidence)
KLF1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Dyserythropoietic anemia, congenital, type IV, 613673
  • Congenital Dyserythropoietic Anemia
Tags
Green Green List (high evidence)
MECOM
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738
  • 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Tags
Green Green List (high evidence)
MPL
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 601977 Thrombocythemia 2
  • 604498 Thrombocytopenia, congenital amegakaryocytic
  • Thrombocytopenia, congenital amegakaryocytic, 604498
Tags
Green Green List (high evidence)
PARN
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
  • 616353 Dyskeratosis congenita, autosomal recessive 6
  • 616353 Dyskeratosis congenita, autosomal recessive 6
Tags
Green Green List (high evidence)
RMRP
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cartilage-hair hypoplasia
  • 250250 Cartilage-hair hypoplasia
  • Severe congenital neutropenia
Tags
Green Green List (high evidence)
RPL11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond_Blackfan Anemia 7
  • Diamond-Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 7
  • Diamond-Blackfan anemia 7, 612562
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPL15
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 12, 615550
Tags
Green Green List (high evidence)
RPL26
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 11, 614900
Tags
Green Green List (high evidence)
RPL27
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia
  • ?Diamond-Blackfan anemia 16, 617408
Tags
Green Green List (high evidence)
RPL31
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia
Tags
Green Green List (high evidence)
RPL35A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 5, 612528
  • Diamond-Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 5
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan Anemia 5
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPL5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 6, 612561
  • DIAMOND-BLACKFAN ANEMIA 6
  • Diamond Blackfan Anemia 6
  • Diamond-Blackfan Anemia
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPL9
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPS10
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond_Blackfan Anemia 9
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 9, 613308
  • DIAMOND-BLACKFAN ANEMIA 9
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS17
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
Tags
Green Green List (high evidence)
RPS19
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond_Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • DIAMOND-BLACKFAN ANEMIA 1
  • Diamond-Blackfan Anemia
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS24
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond_Blackfan Anemia 3
  • DIAMOND-BLACKFAN ANEMIA 3
  • Diamond-Blackfan Anemia
  • Inherited Bone Marrow Failure Syndromes
  • Diamond-blackfan anemia 3, 610629
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS26
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond-Blackfan anemia 10
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RPS29
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia 13, 615909
  • Diamond-Blackfan anaemia
Tags
Green Green List (high evidence)
RPS7
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • DIAMOND-BLACKFAN ANEMIA 8
  • Diamond_Blackfan Anemia 8
  • Diamond-Blackfan anemia 8, 612563
  • Diamond-Blackfan Anemia
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
Tags
Green Green List (high evidence)
RTEL1
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
  • 615190 Dyskeratosis congenita
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
  • 615190 DC type 4 and 5
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • Dyskeratosis congenita, autosomal recessive 5 615190
Tags
Green Green List (high evidence)
SAMD9
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • MIRAGE syndrome, 617053
  • 617053 MIRAGE syndrome
Tags
Green Green List (high evidence)
SAMD9L
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 159550 Ataxia-pancytopenia syndrome
  • Ataxia-pancytopenia syndrome, 159550
Tags
Green Green List (high evidence)
SBDS
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Shwachman-Diamond syndrome, 260400
  • 260400 Shwachman-Diamond syndrome
  • Shwachman-Diamond syndrome 260400
Tags
Green Green List (high evidence)
SRC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • ?Thrombocytopenia 6, 616937
Tags
Green Green List (high evidence)
TAZ
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Barth syndrome, 302060
  • 302060 Barth syndrome
Tags
Green Green List (high evidence)
TERC
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • 614743 pulmonary fibrosis and/or bone marrow failure
  • 129550 Dyskeratosis congenita, autosomal dominant 1
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
  • 127550 Dyskeratosis congenita, autosomal dominant 1
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Autosomal Dominant, 1
  • Inherited Bone Marrow Failure Syndromes
Tags
Green Green List (high evidence)
TERT
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • {Pulmonary fibrosis, telomere-related, 1}, 614742
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • Coronary artery disease
  • {Melanoma, cutaneous malignant, 9}, 615134
  • 614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
  • Aplastic Anemia
  • 614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}
  • {Leukemia, acute myeloid}, 601626
  • 613989 Dyskeratosis congenita
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
Tags
Green Green List (high evidence)
THPO
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 187950 Thrombocythemia 1
  • Thrombocythemia 1, 187950
Tags
Green Green List (high evidence)
TINF2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • 268130 Revesz syndrome
  • Revesz Syndrome
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
  • Dyskeratosis congenita
  • 613990 Dyskeratosis congenita, autosomal dominant 3
  • Dyskeratosis congenita, autosomal dominant 3, 613990
  • Revesz syndrome, 268130
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis Congenita, Dominant
Tags
Green Green List (high evidence)
USB1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Poikiloderma with neutropenia, 604173
  • 604173 Poikiloderma with neutropenia
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
VPS45
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 615285 Neutropenia, severe congenital, 5
  • VPS45 deficiency
  • Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
  • 615285 Neutropenia, severe congenital, 5, autosomal recessive
  • Severe congenital neutropenia
Tags
Green Green List (high evidence)
WAS
5 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert review Green
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 313900 Thrombocytopenia, X-linked
  • Neutropenia, severe congenital, X-linked, 300299
  • Thrombocytopenia, X-linked, intermittent 313900
  • 313900 Thrombocytopenia
  • Wiskott-Aldrich syndrome, 301000
  • Thrombocytopenia, X-linked 313900
  • Thrombocytopenia, X-linked, intermittent, 313900
Tags
Green Green List (high evidence)
WIPF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • WIP deficiency
  • Wiskott-Aldrich syndrome like, WIP deficiency
  • ?Wiskott-Aldrich syndrome 2, 614493
  • Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
  • ?Wiskott-Aldrich syndrome 2, 614493
Tags
Green Green List (high evidence)
WRAP53
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 3, 613988
  • 613988 Dyskeratosis congenita, autosomal recessive 3
  • Dyskeratosis Congenita, Recessive
  • 300299 Neutropenia, severe congenital, X-linked
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Autosomal Recessive, 3
  • Inherited Bone Marrow Failure Syndromes
Tags
Amber Amber List (moderate evidence)
ABCG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Sitosterolemia with macrothrombocytopenia
  • Sitosterolemia, 210250
Tags
Amber Amber List (moderate evidence)
ABCG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Sitosterolemia with macrothrombocytopenia
  • Sitosterolemia, 210250
Tags
Amber Amber List (moderate evidence)
ACKR1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • 613665 Benign hereditary neutropenia
Tags
Amber Amber List (moderate evidence)
ACTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bleeding disorder, platelet-type, 15, 615193
  • Macrothrombocytopenia
Tags
Amber Amber List (moderate evidence)
ADAMTS13
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, 274150
Tags
Amber Amber List (moderate evidence)
AP3B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Hermansky-Pudlak syndrome 2, 608233
Tags
Amber Amber List (moderate evidence)
EFL1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Yorkshire and North East GLH
Phenotypes
  • Shwachman-Diamond syndrome 2, 617941
  • 617941 Shwachman-Diamond syndrome 2
Tags
Amber Amber List (moderate evidence)
FCGR3B
2 reviews
Other - please specify in evaluation comments
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neutropenia,alloimmuneneonatal
Tags
Amber Amber List (moderate evidence)
FLI1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bleeding disorder, platelet-type, 21, 617443
Tags
Amber Amber List (moderate evidence)
GP1BA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bernard-Soulier syndrome, type A1, 231200
  • Mild macrothrombocytopenia
  • Platelet type VWD, mild thrombocytopenia
Tags
Amber Amber List (moderate evidence)
GP1BB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bernard-Soulier syndrome, type B, 231200
  • Mild macrothrombocytopenia
Tags
Amber Amber List (moderate evidence)
GP9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bernard-Soulier syndrome (includes macrothrombocytopenia)
  • Bernard-Soulier syndrome, type C, 231200
Tags
Amber Amber List (moderate evidence)
IKZF1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
  • Immunodeficiency, common variable, 13,616873
Tags
Amber Amber List (moderate evidence)
LAT
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Immunodeficiency 52, 617514
Tags
Amber Amber List (moderate evidence)
MASTL
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • severe aplastic anemia
  • Thrombocytopenia
Tags
Amber Amber List (moderate evidence)
MYH9
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Macrothrombocytopenia, 155100
Tags
Amber Amber List (moderate evidence)
MYSM1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • 618116 Bone marrow failure syndrome 4
Tags
Amber Amber List (moderate evidence)
NBEAL2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Gray platelet syndrome, 139090
Tags
Amber Amber List (moderate evidence)
NBN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Aplastic anemia, 609135
  • 251260 Nijmegen breakage syndrome
  • Leukemia, acute lymphoblastic, 613065
  • Nijmegen breakage syndrome, 251260
Tags
Amber Amber List (moderate evidence)
NHP2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • 613987 Dyskeratosis congenita, autosomal recessive 2
  • Dyskeratosis congenita, autosomal recessive 2, 613987
  • Dyskeratosis congenita, autosomal recessive 2,613987
Tags
Amber Amber List (moderate evidence)
NOP10
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, 224230
  • 224230 Dyskeratosis congenita, autosomal recessive 1
Tags
Amber Amber List (moderate evidence)
RAC2
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neutrophil immunodeficiency syndrome, 608203
Tags
Amber Amber List (moderate evidence)
RPL18
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia
Tags
Amber Amber List (moderate evidence)
RPS28
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
Tags
Amber Amber List (moderate evidence)
RUNX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Platelet disorder, familial, with associated myeloid malignancy, 601399
Tags
Amber Amber List (moderate evidence)
SLFN14
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Bleeding disorder, platelet-type, 20, 616913
Tags
Amber Amber List (moderate evidence)
SRP72
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Bone marrow failure, familial, 614675
  • Familial MDS (Myelodysplastic syndromes)
  • Bone Marrow Failure, Familial
  • 614675 Bone marrow failure syndrome 1
  • Familial Bone Marrow Failure
Tags
Amber Amber List (moderate evidence)
STIM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Stormorken syndrome, 185070
Tags
Amber Amber List (moderate evidence)
TCN2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Transcobalamin II deficiency, 275350
Tags
Amber Amber List (moderate evidence)
TSR2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Tags
Amber Amber List (moderate evidence)
TUBB1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Amber
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Macrothrombocytopenia, 613112
Tags
Red Red List (low evidence)
ACTB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Baraitser-Winter syndrome 1 with macrothrombocytopenia
  • Baraitser-Winter syndrome 1, 243310
Tags
Red Red List (low evidence)
ARPC1B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
Tags
Red Red List (low evidence)
CD40
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, 606843
Tags
Red Red List (low evidence)
CD40LG
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM, 308230
Tags
Red Red List (low evidence)
CDC42
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
Tags
Red Red List (low evidence)
CLPB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Tags
Red Red List (low evidence)
DDX41
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • 616871 Susceptibility to myeloid neoplasms
Tags
Red Red List (low evidence)
DIAPH1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Macrothrombocytopenia and hearing loss
  • Deafness, autosomal dominant 1, 124900
Tags
Red Red List (low evidence)
FLNA
1 review
1 red
Unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Tags
Red Red List (low evidence)
GINS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Immunodeficiency 55, 617827
Tags
Red Red List (low evidence)
GNE
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Nonaka myopathy, 605820
Tags
Red Red List (low evidence)
HOXA11
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432
Tags
Red Red List (low evidence)
HTRA2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248
Tags
Red Red List (low evidence)
ITGA2B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Glanzmann thrombasthenia, 273800
Tags
Red Red List (low evidence)
ITGB3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Glanzmann thrombasthenia, 273800
Tags
Red Red List (low evidence)
KDSR
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526
Tags
Red Red List (low evidence)
LAMTOR2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Tags
Red Red List (low evidence)
LIG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • 606593 LIG4 syndrome
Tags
Red Red List (low evidence)
LYST
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Chediak-Higashi syndrome, 214500
Tags
Red Red List (low evidence)
MPIG6B
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 617441 Thrombocytopenia, anemia, and myelofibrosis
  • ?Thrombocytopenia, anemia, and myelofibrosis1, 617441
  • ?Thrombocytopenia, anemia, and myelofibrosis, 617441
Tags
Red Red List (low evidence)
MSN
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Immunodeficiency 50, 300988
Tags
Red Red List (low evidence)
MTHFD1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780
Tags
Red Red List (low evidence)
PSMB8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040
Tags
Red Red List (low evidence)
PTPN11
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Noonan syndrome 1, 163950
Tags
Red Red List (low evidence)
RBM8A
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
  • 615190 DC type 4 and 5
  • 274000 Thrombocytopenia-absent radius syndrome
Tags
Red Red List (low evidence)
RNU4ATAC
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Roifman syndrome, 616651
  • Microcephalic osteodysplastic primordial dwarfism, type I, 210710
Tags
Red Red List (low evidence)
RPS27
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia
  • ?Diamond-Blackfan anemia 17, 617409
Tags
Red Red List (low evidence)
SLC37A4
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Glycogen storage disease Ib, 232220
Tags
Red Red List (low evidence)
SMARCAL1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Schimke immunoosseous dysplasia, 242900
Tags
Red Red List (low evidence)
STK4
1 review
1 red
Unknown
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
Tags
Red Red List (low evidence)
TP53
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • 618165 Bone marrow failure syndrome 5
Tags
Red Red List (low evidence)
VPS13B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • Cohen syndrome, 216550
Tags
Red Red List (low evidence)
VWF
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert review Red
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
Phenotypes
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
  • von Willibrand disease, type 3, 277480
  • von Willebrand disease, type 1, 193400
Tags

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