Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Amber
Phenotypes
- Reticular dysgenesis, 267500
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Syndromic intellectual disability
- cytopenia
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
Tags
|
Red
Red List (low evidence)
|
|
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
|