Cytopenia - NOT Fanconi anaemia (Version 1.52)

The latest signed off version for the GMS is v1.29. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R91 Cytopenia - NOT Fanconi anaemia' 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'.

The content of this panel (version 1.29: https://panelapp.genomicsengland.co.uk/api/v1/panels/519/?version=1.29) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated version number.

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.

Panel Activity

11 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
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Mandy nesbitt (Healthcare Professional)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Frances Smith (King's College Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (RadboudUMC)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

127 Entities

127 reviewed, 55 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 127 Entitiess
Green Green List (high evidence)	ACD	7 reviews 3 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Yorkshire and North East GLH Phenotypes Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 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 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 Sneddon syndrome, OMIM:182410 Diamond-Blackfan Anemia 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	5 reviews 2 green 1 red	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 for-review
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	5 reviews 2 green 1 red	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 for-review
Green Green List (high evidence)	RPL27	5 reviews 2 green 1 red	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 Q2_21_expert_review
Green Green List (high evidence)	RPL31	5 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 for-review
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	5 reviews 2 green 1 red	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 for-review
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	4 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 Dyskeratosis congenita, autosomal dominant 3, 613990 Revesz syndrome, 268130 Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia 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, hereditary, OMIM:274150 Tags
Amber Amber List (moderate evidence)	AK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Reticular dysgenesis, 267500 Tags for-review
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)	CLPB	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber 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, OMIM:616271 Tags Q4_21_rating
Amber Amber List (moderate evidence)	EFL1	5 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 for-review
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	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Bone marrow failure syndrome 4, 618116 Tags for-review
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	6 reviews 2 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 2, 613987 Tags for-review
Amber Amber List (moderate evidence)	NOP10	6 reviews 1 green 1 red	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 Tags
Amber Amber List (moderate evidence)	NPM1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Amber Phenotypes radial ray defects short stature nail dsytrophy bone marrow failure 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)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability cytopenia Tags watchlist
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)	RPS20	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature 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)	SRP54	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, 618752 Tags for-review
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)	STN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 Tags for-review
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 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM: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)	DDX41	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS Phenotypes Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871 Tags for-review
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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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 Heterotopia, periventricular, 1, OMIM:300049 Macrothrombocytopenia 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)	POLR2C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes thrombocytopenia, MONDO:0002049 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, OMIM: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 17, OMIM: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
No list No list	RPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes bone marrow failure T- and B-cell lymphopenia pulmonary fibrosis skin manifestations. Tags

Major version comments

2019-11-12 16:51 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.136) was signed off under NHS Genomic Medicine Service governance on (12/11/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Cytopenia - NOT Fanconi anaemia (Version 1.52)

11 reviewers

127 Entities

127 reviewed, 55 green

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