Green
Green List (high evidence)
|
|
7 reviews
4 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
London South GLH
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Anemia, sideroblastic, with ataxia
- Sideroblastic Anemia and Ataxia
- 301310 Sideroblastic Anemia and Ataxia
- 301310 Sideroblastic anaemia
- Anemia, sideroblastic, with ataxia, 301310
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
- sitosterolaemia
- 210250 sitosterolaemia
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
- sitosterolaemia
- 210250 sitosterolaemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
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)
|
|
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
- 612631 Hemolytic anemia due to adenylate kinase deficiency
- Hemolytic anemia due to adenylate kinase deficiency, 612631
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
- Anemia, sideroblastic, 1, OMIM:300751
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
- Glycogen storage disease due to aldolase A deficiency
- 611881 Aldolase A deficiency
- Enzyme Disorder
- Aldolase A deficiency
- Glycogen storage disease XII, 611881
- 611881 Glycogen storage disease XII
- Glycogen storage disease
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 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
- Megaloblastic anemia-1, Norwegian type, 261100
- 261100 Megaloblastic anemia-1, Norwegian type
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
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
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- 182900 Spherocytosis, type 1
- 182900 RBC membrane abnormality
- RBC membrane abnormality
- Spherocytosis, type 1,182900
- Spherocytosis, type 1
Tags
|
Green
Green List (high evidence)
|
|
6 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
- Dyserythropoietic anemia, congenital, type Ib, OMIM:615631
- Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Yorkshire and North East GLH
Phenotypes
- 305000 Dyskeratosis congenita, X-linked
- Dyskeratosis congenita, X-linked, 305000
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 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
- Dyserythropoietic anemia, congenital, type Ia, OMIM:224120
- Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 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
- Megaloblastic anemia-1, Finnish type, 261100
- Megaloblastic Anemia
- 261100 Megaloblastic anemia-1, Finnish type
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
- Methaemoglobinaemia type I and II, 250800
- 250800 Methemoglobinemia
- 250800 Methaemoglobinaemia type I and II
- Methaemoglobinaemia
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
- 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
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
- 611804 Elliptocytosis-1
- 611804 Hereditary elliptocytosis
- Elliptocytosis
- RBC membrane abnormality
- Hereditary elliptocytosis
- Elliptocytosis-1,611804
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
- Spherocytosis, type 5, 612690
- EPB42-related hereditary spherocytosis
- 612690 Spherocytosis, type 5
- Spherocytosis, Recessive
- Elliptocytosis
- Minkowski-Chauffard disease
- RBC membrane abnormality
- Hereditary spherocytosis type 5
- 612690 Hereditary spherocytosis type 5
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
London South GLH
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Hemolytic anemia due to G6PD deficiency, 300908
- 300908 Hemolytic anemia due to G6PD deficiency
- 300908 Hemolytic anemia, G6PD deficient (favism)
- Enzyme Disorder
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
- 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Diamond-Blackfan anaemia
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
- 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
- Diamond Blackfan Anaemia
- 300367 Diamond Blackfan Anaemia
- Myelodysplastic syndrome (MDS), Paediatric
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367
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
- 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
- 230450 Glutamate-cysteine ligase deficiency
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
- Glutamate-cysteine ligase deficiency
- Enzyme Disorder
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London South GLH
-
NHS GMS
Phenotypes
- 261000 Intrinsic factor deficiency
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
- 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
- 616860 Pyridoxine refractory sideroblastic anaemia 3
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
- Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
- 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Hemolytic anemia due to glutathione reductase deficiency, OMIM:618660
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
- Glutathione synthetase deficiency, 266130
- Hemolytic anemia due to glutathione synthetase deficiency, 231900
- Enzyme Disorder
- 231900 Enzyme Disorder
- Hemolytic anemia due to glutathione synthetase deficiency
- 266130 Glutathione synthetase deficiency
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
- Erythrocytosis 7, OMIM:617981
- Heinz body anemias, alpha-, OMIM:140700
- Hemoglobin H disease, nondeletional, OMIM:613978
- Methemoglobinemia, alpha type, OMIM:617973
- Thalassemias, alpha-, OMIM:604131
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
- Erythrocytosis 7, OMIM:617981
- Heinz body anemia, OMIM:140700
- Hemoglobin H disease, deletional and nondeletional, OMIM:613978
- Thalassemia, alpha-, OMIM:604131
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
- Delta-beta thalassemia, OMIM:141749
- Heinz body anemia, OMIM:140700
- Hereditary persistence of fetal hemoglobin, OMIM:141749
- Methemoglobinemia, beta type, OMIM:617971
- Thalassemia, beta, OMIM:613985
- Thalassemia-beta, dominant inclusion-body, OMIM:603902
- Sickle cell anemia, OMIM:603903
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore
- Thalassemia, delta
- Thalassemia due to Hb Lepore
- Thalassemiadue to HbLepore
- Thalassemia,delta
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- Fetal hemoglobin quantitative trait locus 1, OMIM:141749
- Hereditary persistance of fetal haemoglobin
- Globin Disorder
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
- Fetal hemoglobin quantitative trait locus 1, OMIM:141749
- Cyanosis, transient neonatal, OMIM:613977
- Globin Disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
NHS GMS
Phenotypes
- Anemia
- Thrombocytopenia
- Growth delay
- Short stature
- Abnormality of the skeletal system
- Abnormality of finger
- Abnormality of the thumb
- Intellectual disability
- Obesity
- Abnormality of the face
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
- Hemolytic anemia due to hexokinase deficiency, OMIM:235700
- Enzyme disorder
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- sideroblastic anaemia
- 182170 Sideroblastic anaemia 4
- 182170 sideroblastic anaemia type 4
- Sideroblastic anaemia type 4, 182170
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
- 616689 Dehydrated hereditary stomatocytosis 2
- Hereditary Xerocytosis
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
1 red
|
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
- Congenital dyserythropoietic anemia (CDA)
- Enzyme Disorder
- CDA III
- Anaemia, dyserythropoietic congenital, type III
- Congenital dyserythropoietic anemia type III
- 605064 Congenital dyserythropoietic anaemia type 3
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
4 green
|
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
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
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
- Majeed syndrome, OMIM:609628
- Microcytic anemia
- Congenital dyserythropoietic anemia
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
- 250940 Homocystinuria-megaloblastic anemia, cblG complementation type
- Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
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
- Homocystinuria-megaloblastic anemia, cbl E type, 236270
- 236270 Homocystinuria-megaloblastic anemia, cbl E type
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
- Anemia, hemolytic, due to UMPH1 deficiency, 266120
- 266120 Anemia, hemolytic, due to UMPH1 deficiency
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
- 232800 Glycogen storage disease VII
- Glycogen storage disease VII, 232800
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
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380
- Hereditary xerocytosis
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
- Pyruvate kinase deficiency, OMIM:266200
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
- 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
- 600462 Myopathy, Lactic Acidosis, and Sideroblastic 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
- Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR)
- Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- Diamond_Blackfan Anemia 7
- Inherited Bone Marrow Failure Syndromes
- 612562 Diamond_Blackfan Anemia 7
- Diamond-Blackfan Anemia 7
- Diamond-Blackfan Anemia
- 612562 Diamond-Blackfan anemia 7
- Diamond-Blackfan anemia 7, 612562
- DIAMOND-BLACKFAN ANEMIA 7
- Diamond Blackfan anemia
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
- ?Diamond-Blackfan anemia 12, 615550
- 615550 ?Diamond-Blackfan anemia 1
- 615550 ?Diamond-Blackfan anaemia 12
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- N/A ? Diamond-Blackfan Anaemia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- 612528 Diamond_Blackfan Anemia 5
- Diamond-Blackfan Anemia 5
- Diamond-Blackfan anemia 5, 612528
- Diamond-Blackfan Anemia
- 612528 Diamond-Blackfan anemia 5
- DIAMOND-BLACKFAN ANEMIA 5
- Inherited Bone Marrow Failure Syndromes
- Diamond_Blackfan Anemia 5
- Diamond Blackfan anemia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- Diamond-Blackfan anemia 6, 612561
- Diamond-Blackfan Anemia 6
- DIAMOND-BLACKFAN ANEMIA 6
- Diamond_Blackfan Anemia 6
- 612561 Diamond_Blackfan Anemia 6
- Diamond-Blackfan Anemia
- 612561 Diamond-Blackfan anemia 6
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
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
- Diamond-Blackfan anemia
- ?Diamond-Blackfan anaemia
- N/A Diamond-Blackfan anemia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- 613308 Diamond_Blackfan Anemia 9
- Diamond-Blackfan Anemia 9
- Diamond_Blackfan Anemia 9
- 613308 Diamond-Blackfan anemia 9
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 9, 613308
- DIAMOND-BLACKFAN ANEMIA 9
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Diamond-Blackfan anemia 4, 612527
- 612527 Diamond-Blackfan anemia 4
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- 105650 Diamond_Blackfan Anemia 1
- Diamond_Blackfan Anemia
- Diamond-Blackfan anemia 1, 105650
- 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)
|
|
5 reviews
4 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
- 610629 Diamond-blackfan anemia 3
- Diamond_Blackfan Anemia 3
- Diamond-Blackfan Anemia 3
- DIAMOND-BLACKFAN ANEMIA 3
- Diamond-Blackfan Anemia
- 610629 Diamond_Blackfan Anemia 3
- Inherited Bone Marrow Failure Syndromes
- Diamond-blackfan anemia 3, 610629
- Diamond Blackfan anemia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- 613309 Diamond-Blackfan anemia 10
- Inherited Bone Marrow Failure Syndromes
- 613309 Diamond_Blackfan Anemia 10
- Diamond_Blackfan Anemia 10
- Diamond-Blackfan anemia 10
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 10, 613309
- Diamond Blackfan anemia
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
- 615909 Diamond-Blackfan anemia 13
- Diamond-Blackfan anemia 13, 615909
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 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
- DIAMOND-BLACKFAN ANEMIA 8
- 612563 Diamond-Blackfan anemia 8
- Diamond_Blackfan Anemia 8
- 612563 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)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Shwachman-Diamond syndrome
- 260400 Shwachman-Diamond syndrome
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
- Dyserythropoietic anemia, congenital, type II, OMIM:224100
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Anemia, hypochromic microcytic, with iron overload 1, 206100
- 206100 Anemia, hypochromic microcytic, with iron overload 1
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
- 249270 Thiamine-responsive megaloblastic anemia syndrome
- 249270 Thiamine-Responsive Megaloblastic Anemia syndrome
- Thiamine-Responsive Megaloblastic Anemia syndrome, 249270
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
- 205950 Pyridoxine refractory sideroblastic anaemia 2
- 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
- Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
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
- 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia
- Pyridoxine-refractory sideroblastic anemia
- 608885 Stomatin-deficient cryohydrocytosis with neurologic defects
- Stomatocytosis
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
- 612653 Spherocytosis, type 4
- Ovalocytosis, SA type, 166900
- 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis
- Spherocytosis, type 4, 612653
- Cryohydrocytosis,185020
- RBC membrane abnormality
- Haemolytic Anemia
- 166900 Ovalocytosis, SA type
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
- Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600
- 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3
- Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970
- 270970 Spherocytosis, type 3
- 130600 Elliptocytosis-2
- RBC membrane abnormality
- 266140 Pyropoikilocytosis
- Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140
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
- Spherocytosis,616649
- Elliptocytosis
- Anemia, neonatal hemolytic, fatal and near-fatal
- RBC membrane abnormality
- 617948 Elliptocytosis-3
- 616649 Spherocytosis, type 2
- 616649 Anemia, neonatal hemolytic, fatal and near-fatal
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
- megaloblastic bone marrow
- failure to thrive
- 275350 Transcobalamin II deficiency
- pancytopenia
- neutropenic colitis
- thrombocytopenia
- Transcobalamin II deficiency
- neutropenia
- hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow
- can have a presentation similar to severe combined immunodeficiency
- Agammaglobulinemia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Atransferrinemia, 209300
- Congenital hypotransferrinemia
- 209300 Congenital hypotransferrinemia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- Iron-Refractory Iron Deficiency Anemia
- 206200 Iron refractoryirondeficiencyanemia
- Iron refractoryirondeficiencyanemia,206200
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
- 615512 Hemolytic anemia due to triosephosphate isomerase deficiency
- Hemolytic anemia due to triosephosphate isomerase deficiency,615512
- Enzyme Disorder
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
- sideroblastic anaemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
London South GLH
-
NHS GMS
Phenotypes
- 258900 Orotic aciduria with megaloblastic anaemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
Research
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
London South GLH
-
NHS GMS
Phenotypes
- McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
- McLeod neuroacanthocytosis syndrome, MONDO:0018945
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
- Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
- 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Aplastic anaemia
- Mental retardation
- Skin hyperpigmentation, Short stature
- Microcephaly
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- ?Anemia, sideroblastic, 5, OMIM:619523
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Not set
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- FINCA syndrome OMIM:618278
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Yorkshire and North East GLH
Phenotypes
- 613987 Dyskeratosis congenita, autosomal recessive 2
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Amber
-
London South GLH
-
NHS GMS
Phenotypes
- 300653 Phosphoglycerate kinase 1 deficiency
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)
|
|
5 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
London South GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- Diamond-Blackfan anemia 16, 617408
- Diamond-Blackfan anemia
Tags
|
Amber
Amber List (moderate evidence)
|
|
8 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- ?Diamond-Blackfan anemia 17, OMIM:617409
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Not set
|
Sources
-
Expert Review Amber
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Amber
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- 301040 Alpha-thalassemia/mental retardation syndrome
Tags
|
Red
Red List (low evidence)
|
|
7 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
-
North West GLH
-
Wessex and West Midlands GLH
-
Yorkshire and North East GLH
Phenotypes
- 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
- 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- 250790 Methemoglobinemia and ambiguous genitalia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Red
-
NHS GMS
-
Yorkshire and North East GLH
Phenotypes
- 305000 Dyskeratosis congenita, X-linked
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- 229100 Glutamate formiminotransferase deficiency
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- 614164 Hemolytic anemia due to glutathione peroxidase deficiency
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- Epsilon-gamma-delta-beta thalassaemia
Tags
|
Red
Red List (low evidence)
|
|
5 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
-
Wessex and West Midlands GLH
Phenotypes
- ?Diamond-Blackfan anemia 11, 614900
- 614900 ?Diamond-Blackfan anemia 11
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
-
NHS GMS
Phenotypes
- 605590 Refractory anaemia with ring sideroblasts
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Megaloblastic anemia, folate-responsive, OMIM:601775
Tags
|