Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R92 Rare 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 'R92 Rare anaemia'.

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

5 reviewers

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Steve Keeney (Central Manchester Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mandy nesbitt (Healthcare Professional)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Frances Smith (King's College Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

94 Entities

94 reviewed, 79 green

List Entity Reviews Mode of inheritance Details
94 Entitiess
Green Green List (high evidence)
ABCB7
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, 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)
ABCG5
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)
ABCG8
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)
ADA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond Blackfan anaemia
Tags
Green Green List (high evidence)
AK1
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)
ALAS2
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, 300751
  • Anemia, sideroblastic, 1 300751
  • 300751 Sideroblastic anaemia 1
  • 300751 Anemia, sideroblastic, 1
Tags
Green Green List (high evidence)
ALDOA
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)
AMN
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)
ANK1
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)
C15orf41
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 Ib
  • 615631 Congenital dyserythropoietic anaemia type 1b
  • 615631 Congenital Dyserythropoietic Anemia
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type Ib, 615631
Tags
Green Green List (high evidence)
CD59
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)
CDAN1
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
  • 224120 Dyserythropoietic anemia, congenital, type Ia
  • Dyserythropoietic anemia, congenital, type Ia, 224120
  • 224120 Congenital dyserythropoietic anaemia type 1a
Tags
Green Green List (high evidence)
COX4I2
5 reviews
1 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
  • 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
Green Green List (high evidence)
CUBN
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)
CYB5R3
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)
DHFR
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)
EPB41
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)
EPB42
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)
G6PD
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)
GATA1
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)
GCLC
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)
GIF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • 261000 Intrinsic factor deficiency
Tags
  • new-gene-name
Green Green List (high evidence)
GLRX5
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)
GPI
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)
GSR
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
  • NA Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
  • Enzyme Disorder
Tags
Green Green List (high evidence)
GSS
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)
HBA1
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
  • 604131 Thalassemias, alpha
  • Erythremias, alpha-
  • Globin Disorder
  • Methemoglobinemias, alpha-
  • Heinz body anemias, alpha-, 140700
  • 604131 Alpha thalassaemia
  • Hemoglobin H disease, nondeletional, 613978
  • Thalassemias, alpha-, 604131
Tags
Green Green List (high evidence)
HBA2
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
  • Hypochromic microcytic anemia
  • Heinz body anemia,140700
  • Globin Disorder
  • Erythrocytosis
  • Thalassemia, alpha-, 604131
  • 604131 Alpha thalassaemia
  • 60413 Thalassemia, alpha
  • Hemoglobin H disease, nondeletional, 613978
Tags
Green Green List (high evidence)
HBB
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
  • 603902 Dominand inclusion body beta thalassaemia
  • Erythremias, beta-
  • Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700
  • Globin Disorder
  • 141749 Delta-beta thalassaemia
  • 613985 Beta thalassaemia
  • Methemoglobinemias, beta-
  • Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985
  • 603903 Sickle cell disease
  • 603902 Thalassemia-beta, dominant inclusion-body
  • Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903
  • Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749
  • Thalassemia-beta, dominant inclusion-body, 603902
  • Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749
  • 613985 Thalassemia, beta
Tags
Green Green List (high evidence)
HBD
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)
HBG1
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
  • 141749 Hereditary persistance of fetal haemoglobin
  • 141749 Globin Disorder
  • Fetal hemoglobin quantitative trait locus 1, 141749
  • Globin Disorder
Tags
Green Green List (high evidence)
HBG2
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
  • Globin Disorder
  • 141749 Globin Disorder
  • Fetal hemoglobin quantitative trait locus 1,141749
  • Fetal hemoglobin quantitative trait locus 1
  • 141749 Hereditary persistance of fetal haemoglobin
  • Cyanosis, transient neonatal, 613977
Tags
Green Green List (high evidence)
HK1
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
  • 235700 Hemolytic anemia due to hexokinase deficiency
  • Hemolytic anemia due to hexokinase deficiency, 235700
  • 235700 Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency
  • Enzyme Disorder
Tags
Green Green List (high evidence)
HSPA9
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)
KCNN4
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)
KIF23
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
  • 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)
KLF1
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
  • Dyserythropoietic anemia, congenital, type IV, 613673
  • Dyserythropoietic anemia, congenital, type IV
  • Congenital Dyserythropoietic Anemia
  • 613673 Congenital Dyserythropoietic Anemia
  • 613673 Congenital dyserythropoietic anaemia type 4
Tags
Green Green List (high evidence)
LPIN2
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, 609628
  • Microcytic anemia
  • Congenital dyserythropoietic anemia
  • CDA
  • 609628 Majeed syndrome
  • Majeed syndrome
  • 609628 Microcytic anemia
Tags
Green Green List (high evidence)
MTR
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)
MTRR
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)
NT5C3A
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)
PFKM
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)
PIEZO1
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
  • 194380 Stomatocytosis
  • 616843 Lymphatic malformation 6
  • 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
  • Stomatocytosis
  • Hereditary xerocytosis
  • Dehydrated hereditary stomatocytosis
Tags
Green Green List (high evidence)
PKLR
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
  • Enzyme Disorder
  • PYRUVATE KINASE DEFICIENCY
  • Pyruvate kinase deficiency
  • 266200 PYRUVATE KINASE DEFICIENCY
  • 266200 Pyruvate kinase deficiency
  • Pyruvate kinase deficiency, 266200
Tags
Green Green List (high evidence)
PUS1
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)
RHAG
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 (BIALLELIC, autosomal or pseudoautosomal), 268150
  • 268150 Anemia, hemolytic, Rh-null, regulator type
  • Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
  • 185000 Overhydrated hereditary stomatocytosis
  • Stomatocytosis
Tags
Green Green List (high evidence)
RPL11
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)
RPL15
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)
RPL26
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 11, 614900
  • 614900 ?Diamond-Blackfan anemia 11
Tags
Green Green List (high evidence)
RPL27
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 16, 617408
  • Diamond-Blackfan anemia
Tags
Green Green List (high evidence)
RPL31
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)
RPL35A
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)
RPL5
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)
RPL9
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)
RPS10
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)
RPS17
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)
RPS19
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)
RPS24
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)
RPS26
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)
RPS27
4 reviews
2 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
  • ?Diamond-Blackfan anemia 17, 617409
  • 617409 ?Diamond-Blackfan anemia 17,
Tags
Green Green List (high evidence)
RPS29
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)
RPS7
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)
SBDS
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)
SEC23B
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
  • 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
  • Congenital Dyserythropoietic Anemia
  • 224100 Congenital dyserythropoietic anaemia type 2
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
  • Anemia, dyserythropoieticcongenital, type II, 224100
  • Congenital dyserythropoietic anemia type II
Tags
Green Green List (high evidence)
SLC11A2
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)
SLC19A2
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)
SLC25A38
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)
SLC2A1
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)
SLC4A1
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)
SPTA1
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)
SPTB
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)
TCN2
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)
TF
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)
TMPRSS6
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)
TPI1
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)
TRNT1
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)
UMPS
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)
XK
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • 300842 McLeod syndrome
Tags
Green Green List (high evidence)
YARS2
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)
LARS2
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • hydrops/sideroblastic anaemia
Tags
Amber Amber List (moderate evidence)
NDUFB11
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • sideroblastic anaemia
Tags
Amber Amber List (moderate evidence)
NHP2
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)
PGK1
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)
RPL18
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia
Tags
Amber Amber List (moderate evidence)
RPS28
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)
STEAP3
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • hypochromic anaemia
Tags
Amber Amber List (moderate evidence)
TSR2
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)
ATRX
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)
CYB5A
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)
DKC1
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)
FTCD
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)
GPX1
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)
HBE1
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)
SF3B1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • 605590 Refractory anaemia with ring sideroblasts
Tags

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