The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Rare anaemia (Version 3.23)

Level 2: Haematology

Relevant disorders: R92
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (22 Mar 2023)
Previously signed off versions: v2.0, v1.2

Description

This panel is used for clinical indication 'R92 Rare anaemia' in the NHS Genomic Medicine Service.

There is a also small gene panel for Rare anaemia (R92.2) consisting of HBA1, HBA2, HBB, HBG1, HBG2.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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

Panel Activity

16 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
Evan Reid (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)

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

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

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

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

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

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

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

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

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

104 Entities

104 reviewed, 80 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 104 Entitiess
Green List (high evidence)	ABCB7	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 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 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 List (high evidence)	ADA2	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 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 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, OMIM:300751 Tags
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 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 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 List (high evidence)	C15orf41	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 new-gene-name
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 List (high evidence)	CDAN1	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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	GSR	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 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 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 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 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 Erythrocytosis 7, OMIM:617981 Heinz body anemia, OMIM:140700 Hemoglobin H disease, deletional and nondeletional, OMIM:613978 Thalassemia, alpha-, OMIM:604131 Tags
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 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 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 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, OMIM:141749 Hereditary persistance of fetal haemoglobin Globin Disorder Tags
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 Fetal hemoglobin quantitative trait locus 1, OMIM:141749 Cyanosis, transient neonatal, OMIM:613977 Globin Disorder Tags
Green List (high evidence)	HEATR3	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 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 Hemolytic anemia due to hexokinase deficiency, OMIM:235700 Enzyme disorder Tags
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 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 List (high evidence)	KIF23	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 List (high evidence)	KLF1	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 List (high evidence)	LARS2	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 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, OMIM:609628 Microcytic anemia Congenital dyserythropoietic anemia Tags
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 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 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 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 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 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380 Hereditary xerocytosis Tags
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 Pyruvate kinase deficiency, OMIM:266200 Tags
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 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, OMIM:268150 (AR) Overhydrated hereditary stomatocytosis, OMIM:185000 (AD) Tags
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 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 List (high evidence)	RPL17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Diamond-Blackfan anemia 22, OMIM:621262 Diamond-Blackfan anemia 22, MONDO:0979244 Tags
Green List (high evidence)	RPL27	7 reviews 4 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 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 gene-checked
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 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 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 gene-checked
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 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 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 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 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 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 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 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 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 Dyserythropoietic anemia, congenital, type II, OMIM:224100 Tags
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 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 Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 Tags
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 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 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 List (high evidence)	SPTA1	6 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, OMIM:130600 Pyropoikilocytosis, OMIM:266140 Spherocytosis, type 3, OMIM:270970 Tags
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 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 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 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 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 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 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 List (high evidence)	VPS4A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Research Phenotypes CIMDAG syndrome Tags
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 McLeod syndrome with or without chronic granulomatous disease, OMIM:300842 McLeod neuroacanthocytosis syndrome, MONDO:0018945 Tags
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 List (moderate evidence)	ADH5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aplastic anaemia Mental retardation Skin hyperpigmentation, Short stature Microcephaly Tags digenic
Amber List (moderate evidence)	CPOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags Q3_25_promote_green
Amber List (moderate evidence)	HSCB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Anemia, sideroblastic, 5, OMIM:619523 Tags watchlist
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 List (moderate evidence)	NHLRC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes FINCA syndrome OMIM:618278 Tags
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 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 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 List (moderate evidence)	RPS27	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 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 List (moderate evidence)	SLC19A1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Megaloblastic anemia, folate-responsive, OMIM:601775 Immunodeficiency 114, folate-responsive, OMIM:620603 Tags Q2_26_promote_green
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 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 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 List (low evidence)	COX4I2	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 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 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 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 List (low evidence)	FUT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Developmental and epileptic encephalopathy Tags
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 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 List (low evidence)	RPL26	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 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
No list	PPOX	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes 121300 618892 Tags curated_removed

Major version comments

2023-03-22 15:35 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

2022-11-30 14:54 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-09-23 14:44 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.77) was signed off under NHS Genomic Medicine Service governance on (23/09/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Rare anaemia (Version 3.23)

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