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Red cell disorders v1.29 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Red cell disorders v1.28 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 21055716; 33339573; 32815883; 32221653; 32032242; 31818881
Red cell disorders v1.27 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v1.26 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v1.26 RPL26 Zornitza Stark Publications for gene: RPL26 were set to 22431104
Red cell disorders v1.25 RPL26 Zornitza Stark Classified gene: RPL26 as Green List (high evidence)
Red cell disorders v1.25 RPL26 Zornitza Stark Gene: rpl26 has been classified as Green List (High Evidence).
Red cell disorders v1.24 RPL26 Sangavi Sivagnanasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: None; Publications: 39268718; Phenotypes: Diamond-Blackfan anemia MONDO:0015253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.24 PKLR Zornitza Stark Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v1.23 PKLR Zornitza Stark edited their review of gene: PKLR: Added comment: Only single family for the mono-allelic condition.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v1.23 SLC19A1 Zornitza Stark Publications for gene: SLC19A1 were set to 32276275
Red cell disorders v1.22 SLC19A1 Zornitza Stark edited their review of gene: SLC19A1: Added comment: PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity.

PMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation.

Phenotypes not entirely consistent, homozygous variants.; Changed rating: AMBER; Changed publications: 32276275, 36745868, 36517554; Changed phenotypes: Megaloblastic anemia, folate-responsive, MIM# 601775
Red cell disorders v1.22 SLC19A1 Elena Savva Classified gene: SLC19A1 as Amber List (moderate evidence)
Red cell disorders v1.22 SLC19A1 Elena Savva Gene: slc19a1 has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.21 POLE Seb Lunke Marked gene: POLE as ready
Red cell disorders v1.21 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Red cell disorders v1.21 POLE Seb Lunke Classified gene: POLE as Red List (low evidence)
Red cell disorders v1.21 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Red cell disorders v1.20 POLE Lilian Downie gene: POLE was added
gene: POLE was added to Red cell disorders. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 37833059
Phenotypes for gene: POLE were set to MONDO:0002254 syndromic disease
Review for gene: POLE was set to RED
Added comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis.
Sources: Literature
Red cell disorders v1.20 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassaemia/mental retardation syndrome, MIM# 301040 to ATR-X-related syndrome MONDO:0016980
Red cell disorders v1.19 Zornitza Stark HPO terms changed from to Abnormal erythrocyte morphology, HP:0001877
List of related panels changed from to Abnormal erythrocyte morphology; HP:0001877
Red cell disorders v1.18 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Red cell disorders v1.18 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Red cell disorders v1.18 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083
Red cell disorders v1.17 GATA1 Zornitza Stark edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase 301083
Red cell disorders v1.17 RHCE Zornitza Stark Marked gene: RHCE as ready
Red cell disorders v1.17 RHCE Zornitza Stark Gene: rhce has been classified as Green List (High Evidence).
Red cell disorders v1.17 RHCE Zornitza Stark Classified gene: RHCE as Green List (high evidence)
Red cell disorders v1.17 RHCE Zornitza Stark Gene: rhce has been classified as Green List (High Evidence).
Red cell disorders v1.16 RHCE Zornitza Stark gene: RHCE was added
gene: RHCE was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: RHCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RHCE were set to 9657766; 16271106; 25413218
Phenotypes for gene: RHCE were set to Rh-null disease, amorph type, MIM# 617970
Review for gene: RHCE was set to GREEN
Added comment: The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Multiple families reported.
Sources: Expert list
Red cell disorders v1.15 RACGAP1 Zornitza Stark Marked gene: RACGAP1 as ready
Red cell disorders v1.15 RACGAP1 Zornitza Stark Gene: racgap1 has been classified as Red List (Low Evidence).
Red cell disorders v1.15 RACGAP1 Zornitza Stark gene: RACGAP1 was added
gene: RACGAP1 was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: RACGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RACGAP1 were set to 34818416
Phenotypes for gene: RACGAP1 were set to Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789
Review for gene: RACGAP1 was set to RED
Added comment: Single affected individual reported.
Sources: Expert list
Red cell disorders v1.14 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia type III to Anaemia, congenital dyserythropoietic, type IIIA 105600
Red cell disorders v1.13 KIF23 Zornitza Stark Publications for gene: KIF23 were set to 23570799
Red cell disorders v1.12 KIF23 Zornitza Stark Classified gene: KIF23 as Amber List (moderate evidence)
Red cell disorders v1.12 KIF23 Zornitza Stark Gene: kif23 has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.11 KIF23 Zornitza Stark edited their review of gene: KIF23: Added comment: Second individual reported, elongation variant.; Changed rating: AMBER; Changed phenotypes: Anaemia, congenital dyserythropoietic, type IIIA 105600
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Marked gene: C1GALT1C1 as ready
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Red cell disorders v1.11 C1GALT1C1 Ain Roesley Phenotypes for gene: C1GALT1C1 were changed from to Tn polyagglutination syndrome, somatic MIM#300622
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Classified gene: C1GALT1C1 as Green List (high evidence)
Red cell disorders v1.10 C1GALT1C1 Ain Roesley Gene: c1galt1c1 has been classified as Green List (High Evidence).
Red cell disorders v1.9 C1GALT1C1 Ain Roesley gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Red cell disorders. Sources: Literature
somatic tags were added to gene: C1GALT1C1.
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 18537974; 16251947
Review for gene: C1GALT1C1 was set to GREEN
gene: C1GALT1C1 was marked as current diagnostic
Added comment: Previously known as COSMC
>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture
Sources: Literature
Red cell disorders v1.8 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Erythrocytosis
Red cell disorders v1.7 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 22529292; 21944700; 23695678; 23479567
Red cell disorders v1.6 PIEZO1 Zornitza Stark edited their review of gene: PIEZO1: Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis.; Changed publications: 21944700, 23695678, 23479567, 33181827; Changed phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380, Erythrocytosis
Red cell disorders v1.6 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Red cell disorders v1.6 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Red cell disorders v1.6 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Green List (high evidence)
Red cell disorders v1.6 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Red cell disorders v1.5 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Red cell disorders. Sources: Expert Review
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972; 22341971; 29193034
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Erythrocytosis/polycythaemia is a feature.
Sources: Expert Review
Red cell disorders v1.4 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Red cell disorders v1.4 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Red cell disorders v1.4 AMMECR1 Zornitza Stark Classified gene: AMMECR1 as Green List (high evidence)
Red cell disorders v1.4 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Red cell disorders v1.3 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Red cell disorders. Sources: Expert Review
Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AMMECR1 were set to 27811305; 28089922; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Review for gene: AMMECR1 was set to GREEN
Added comment: More than 5 unrelated individuals reported with midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.Anaemia is sometimes present. Some individuals may show mild early motor or speech delay, but cognition is normal. However, onset is in early childhood.
Sources: Expert Review
Red cell disorders v1.2 HSCB Zornitza Stark Marked gene: HSCB as ready
Red cell disorders v1.2 HSCB Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.2 HSCB Zornitza Stark Classified gene: HSCB as Amber List (moderate evidence)
Red cell disorders v1.2 HSCB Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence).
Red cell disorders v1.1 HSCB Zornitza Stark gene: HSCB was added
gene: HSCB was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSCB were set to 32634119
Phenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5 619523
Review for gene: HSCB was set to AMBER
Added comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: Expert list
Red cell disorders v1.0 Zornitza Stark promoted panel to version 1.0
Red cell disorders v0.222 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Red cell disorders v0.221 HBG2 Zornitza Stark Marked gene: HBG2 as ready
Red cell disorders v0.221 HBG2 Zornitza Stark Gene: hbg2 has been classified as Green List (High Evidence).
Red cell disorders v0.221 HBG2 Zornitza Stark Phenotypes for gene: HBG2 were changed from Cyanosis, transient neonatal, 613977; 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749 to Fetal haemoglobin quantitative trait locus 1, MIM# 141749; Cyanosis, transient neonatal, MIM# 613977
Red cell disorders v0.220 HBG2 Zornitza Stark Mode of inheritance for gene: HBG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.219 HBG2 Zornitza Stark reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal hemoglobin quantitative trait locus 1, MIM# 141749, Cyanosis, transient neonatal, MIM# 613977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.219 HBG1 Zornitza Stark Marked gene: HBG1 as ready
Red cell disorders v0.219 HBG1 Zornitza Stark Gene: hbg1 has been classified as Green List (High Evidence).
Red cell disorders v0.219 HBG1 Zornitza Stark Phenotypes for gene: HBG1 were changed from 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1, 141749 to Fetal haemoglobin quantitative trait locus 1, 141749
Red cell disorders v0.218 HBG1 Zornitza Stark changed review comment from: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations.; to: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations.
Red cell disorders v0.218 HBG1 Zornitza Stark reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal haemoglobin quantitative trait locus 1 141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.218 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Red cell disorders v0.218 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Red cell disorders v0.218 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond-Blackfan Anemia 3; Diamond Blackfan anemia; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 3; Diamond_Blackfan Anemia 3; 610629 Diamond_Blackfan Anemia 3; 610629 Diamond-blackfan anemia 3 to Diamond-Blackfan anaemia 3, MIM# 610629
Red cell disorders v0.217 RPS24 Zornitza Stark Publications for gene: RPS24 were set to 17186470; 23812780
Red cell disorders v0.216 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Red cell disorders v0.216 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Red cell disorders v0.216 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110
Red cell disorders v0.215 RPS19 Zornitza Stark Publications for gene: RPS19 were set to 9988267
Red cell disorders v0.214 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Red cell disorders v0.214 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Red cell disorders v0.214 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 to Diamond-Blackfan anaemia 4, MIM# 612527
Red cell disorders v0.213 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Red cell disorders v0.213 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Red cell disorders v0.213 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from 613308 Diamond-Blackfan anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 9; Diamond-Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; 613308 Diamond_Blackfan Anemia 9; Diamond_Blackfan Anemia 9 to Diamond-Blackfan anaemia 9, MIM# 613308
Red cell disorders v0.212 RPS10 Zornitza Stark Publications for gene: RPS10 were set to 20116044
Red cell disorders v0.211 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Red cell disorders v0.211 RPL9 Zornitza Stark Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.211 RPL9 Zornitza Stark Phenotypes for gene: RPL9 were changed from Diamond-Blackfan anemia; N/A Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia to Diamond Blackfan anaemia
Red cell disorders v0.210 RPL9 Zornitza Stark Publications for gene: RPL9 were set to 29114930
Red cell disorders v0.209 RPL9 Zornitza Stark Classified gene: RPL9 as Amber List (moderate evidence)
Red cell disorders v0.209 RPL9 Zornitza Stark Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.208 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Red cell disorders v0.208 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Red cell disorders v0.208 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 612561 Diamond-Blackfan anemia 6; Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6 to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937
Red cell disorders v0.207 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Red cell disorders v0.207 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Red cell disorders v0.207 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 5; Diamond-Blackfan anemia 5, 612528; 612528 Diamond-Blackfan anemia 5; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 5; 612528 Diamond_Blackfan Anemia 5; Diamond_Blackfan Anemia 5 to Diamond-Blackfan anaemia 5, MIM# 612528
Red cell disorders v0.206 RPL35A Zornitza Stark Publications for gene: RPL35A were set to 18535205
Red cell disorders v0.205 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Red cell disorders v0.205 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Red cell disorders v0.205 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.205 RPL31 Zornitza Stark Phenotypes for gene: RPL31 were changed from N/A ? Diamond-Blackfan Anaemia to Diamond Blackfan anaemia
Red cell disorders v0.204 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Red cell disorders v0.204 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.203 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Red cell disorders v0.203 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Red cell disorders v0.203 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; Diamond-Blackfan anemia 16, 617408 to Diamond-Blackfan anemia 16, MIM# 617408
Red cell disorders v0.202 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Red cell disorders v0.202 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Red cell disorders v0.201 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Red cell disorders v0.201 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Red cell disorders v0.201 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from Diamond-Blackfan anemia 10, 613309; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Diamond_Blackfan Anemia 10; 613309 Diamond-Blackfan anemia 10 to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Red cell disorders v0.200 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Red cell disorders v0.200 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Red cell disorders v0.200 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, to Diamond-Blackfan anemia 17, MIM# 617409
Red cell disorders v0.199 RPS27 Zornitza Stark Publications for gene: RPS27 were set to 25424902; 23718193
Red cell disorders v0.198 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Red cell disorders v0.198 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Red cell disorders v0.197 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13, MIM# 615909 to Diamond-Blackfan anaemia 13, MIM# 615909
Red cell disorders v0.196 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Red cell disorders v0.196 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.196 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13 to Diamond-Blackfan anemia 13, MIM# 615909
Red cell disorders v0.195 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Red cell disorders v0.195 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.194 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Red cell disorders v0.194 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Red cell disorders v0.194 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 to Diamond-Blackfan anaemia 8, MIM# 612563; MONDO:0012939
Red cell disorders v0.193 RPS7 Zornitza Stark Publications for gene: RPS7 were set to 19061985; 27882484; 23718193
Red cell disorders v0.192 SBDS Zornitza Stark Marked gene: SBDS as ready
Red cell disorders v0.192 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Red cell disorders v0.192 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from 260400 Shwachman-Diamond syndrome; Shwachman-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400
Red cell disorders v0.191 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Red cell disorders v0.191 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Red cell disorders v0.191 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Congenital Dyserythropoietic Anemia; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; 224100 Congenital dyserythropoietic anaemia type 2 to Dyserythropoietic anaemia, congenital, type II , MIM#224100
Red cell disorders v0.190 SEC23B Zornitza Stark Publications for gene: SEC23B were set to 19561605
Red cell disorders v0.189 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Red cell disorders v0.189 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Red cell disorders v0.189 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270
Red cell disorders v0.188 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Red cell disorders v0.188 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Red cell disorders v0.188 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2; 205950 Anemia, sideroblastic, 2, pyridoxine-refractory to Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Red cell disorders v0.187 XK Zornitza Stark Marked gene: XK as ready
Red cell disorders v0.187 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Red cell disorders v0.187 XK Zornitza Stark Phenotypes for gene: XK were changed from 300842 McLeod syndrome to McLeod syndrome with or without chronic granulomatous disease MIM# 300842; absence of red blood cell Kx antigen; weak expression of Kell red blood cell antigens; neuroacanthocytosis (peripheral and central nervous systems); cardiovascular abnormalities; myopathy
Red cell disorders v0.186 XK Zornitza Stark Publications for gene: XK were set to 17683354; 11761473
Red cell disorders v0.185 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Red cell disorders v0.185 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Red cell disorders v0.185 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from 613987 Dyskeratosis congenita, autosomal recessive 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Red cell disorders v0.184 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Red cell disorders v0.183 NHP2 Zornitza Stark Classified gene: NHP2 as Red List (low evidence)
Red cell disorders v0.183 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Red cell disorders v0.182 NHP2 Zornitza Stark changed review comment from: Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features. Three unrelated families reported.; to: Pancytopaenia.
Red cell disorders v0.182 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: RED
Red cell disorders v0.182 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Red cell disorders v0.182 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.182 RPL18 Zornitza Stark Phenotypes for gene: RPL18 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anemia 18, MIM# 618310
Red cell disorders v0.181 RPL18 Zornitza Stark Publications for gene: RPL18 were set to 28280134
Red cell disorders v0.180 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Red cell disorders v0.180 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.180 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Red cell disorders v0.179 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Red cell disorders v0.178 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Red cell disorders v0.178 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Red cell disorders v0.178 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Red cell disorders v0.177 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Red cell disorders v0.177 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Red cell disorders v0.176 ATRX Zornitza Stark Marked gene: ATRX as ready
Red cell disorders v0.176 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Red cell disorders v0.176 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from 301040 Alpha-thalassemia/mental retardation syndrome to Alpha-thalassaemia/mental retardation syndrome, MIM# 301040
Red cell disorders v0.175 ATRX Zornitza Stark Publications for gene: ATRX were set to 19444090; 17579672; 11449489
Red cell disorders v0.174 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v0.173 ATRX Zornitza Stark Classified gene: ATRX as Green List (high evidence)
Red cell disorders v0.173 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Red cell disorders v0.172 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 7697714; Phenotypes: Alpha-thalassaemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v0.172 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Red cell disorders v0.172 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Red cell disorders v0.172 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from 305000 Dyskeratosis congenita, X-linked to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Red cell disorders v0.171 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Red cell disorders v0.170 DKC1 Zornitza Stark changed review comment from: Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature.

Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood.

PMID: 25940403, at least 13 of the variants associated with dyskeratosis congenita were also reported to cause HHS: P10L, I38T, T66A, T67I, H68Q, H68Y, S121G, R158W, K314R, A353V, R378Q, A386T and IVS12+1, so NOT only variants in exon 11. Two mutations were only found in HH, T49M and S304N.; to: Pancytopaenia rather than a red cell disorder.
Red cell disorders v0.170 DKC1 Zornitza Stark edited their review of gene: DKC1: Changed rating: RED
Red cell disorders v0.170 Zornitza Stark removed gene:HBE1 from the panel
Red cell disorders v0.169 SF3B1 Zornitza Stark Marked gene: SF3B1 as ready
Red cell disorders v0.169 SF3B1 Zornitza Stark Gene: sf3b1 has been classified as Red List (Low Evidence).
Red cell disorders v0.169 SF3B1 Zornitza Stark Phenotypes for gene: SF3B1 were changed from 605590 Refractory anaemia with ring sideroblasts to Myelodysplastic syndrome, somatic MIM# 614286
Red cell disorders v0.168 SF3B1 Zornitza Stark Mode of inheritance for gene: SF3B1 was changed from Unknown to Other
Red cell disorders v0.167 SF3B1 Zornitza Stark Tag somatic tag was added to gene: SF3B1.
Red cell disorders v0.167 GPX1 Zornitza Stark Marked gene: GPX1 as ready
Red cell disorders v0.167 GPX1 Zornitza Stark Gene: gpx1 has been classified as Red List (Low Evidence).
Red cell disorders v0.167 GPX1 Zornitza Stark Phenotypes for gene: GPX1 were changed from 614164 Hemolytic anemia due to glutathione peroxidase deficiency to Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164
Red cell disorders v0.166 GPX1 Zornitza Stark Publications for gene: GPX1 were set to 1131421
Red cell disorders v0.165 CYB5A Zornitza Stark Marked gene: CYB5A as ready
Red cell disorders v0.165 CYB5A Zornitza Stark Gene: cyb5a has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.165 CYB5A Zornitza Stark Phenotypes for gene: CYB5A were changed from 250790 Methemoglobinemia and ambiguous genitalia to Methemoglobinaemia and ambiguous genitalia MIM#250790
Red cell disorders v0.164 CYB5A Zornitza Stark Publications for gene: CYB5A were set to 8168836; 20080843
Red cell disorders v0.163 CYB5A Zornitza Stark Classified gene: CYB5A as Amber List (moderate evidence)
Red cell disorders v0.163 CYB5A Zornitza Stark Gene: cyb5a has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.162 FTCD Zornitza Stark Marked gene: FTCD as ready
Red cell disorders v0.162 FTCD Zornitza Stark Gene: ftcd has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.162 FTCD Zornitza Stark Phenotypes for gene: FTCD were changed from 229100 Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency MIM# 229100
Red cell disorders v0.161 FTCD Zornitza Stark Publications for gene: FTCD were set to 12815595
Red cell disorders v0.160 FTCD Zornitza Stark Classified gene: FTCD as Amber List (moderate evidence)
Red cell disorders v0.160 FTCD Zornitza Stark Gene: ftcd has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.159 GPX1 Danielle Ariti reviewed gene: GPX1: Rating: RED; Mode of pathogenicity: None; Publications: 1131421, 476008, 5766310, 2492138; Phenotypes: Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.159 SH2B3 Zornitza Stark Marked gene: SH2B3 as ready
Red cell disorders v0.159 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.159 SH2B3 Zornitza Stark Classified gene: SH2B3 as Amber List (moderate evidence)
Red cell disorders v0.159 SH2B3 Zornitza Stark Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.158 SH2B3 Zornitza Stark gene: SH2B3 was added
gene: SH2B3 was added to Red cell disorders. Sources: Expert Review
somatic tags were added to gene: SH2B3.
Mode of inheritance for gene: SH2B3 was set to Other
Publications for gene: SH2B3 were set to 34349782; 23812944; 20843259
Phenotypes for gene: SH2B3 were set to Erythrocytosis, somatic, MIM# 133100
Mode of pathogenicity for gene: SH2B3 was set to Other
Review for gene: SH2B3 was set to AMBER
Added comment: Limited reports, variants appear to be somatic.
Sources: Expert Review
Red cell disorders v0.157 JAK2 Zornitza Stark Marked gene: JAK2 as ready
Red cell disorders v0.157 JAK2 Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.157 JAK2 Zornitza Stark Classified gene: JAK2 as Amber List (moderate evidence)
Red cell disorders v0.157 JAK2 Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.156 JAK2 Zornitza Stark gene: JAK2 was added
gene: JAK2 was added to Red cell disorders. Sources: Expert Review
somatic tags were added to gene: JAK2.
Mode of inheritance for gene: JAK2 was set to Other
Publications for gene: JAK2 were set to 27389715
Phenotypes for gene: JAK2 were set to Erythrocytosis, somatic, 133100
Mode of pathogenicity for gene: JAK2 was set to Other
Review for gene: JAK2 was set to AMBER
Added comment: There is limited evidence to support an association of JAK2 variants with hereditary/congenital erythrocytosis. Typically, variants are somatic/acquired; and to date, only one report has described a patient with germline compound het variants (p.E846D and p.R1063H) in JAK2, who exhibited polyclonal erythrocytosis and megakaryocytic atypia but normal platelet number (PMID:27389715).

GoF somatic variants in this gene are also associated with polycythaemia vera (PV), particularly p.V617F, but also with reports of some familial clustering due to inheritance of the JAK2 46/1 predisposition haplotype.

Amber rating due to the somatic nature of variants.
Sources: Expert Review
Red cell disorders v0.155 VHL Zornitza Stark Marked gene: VHL as ready
Red cell disorders v0.155 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Red cell disorders v0.155 VHL Zornitza Stark Classified gene: VHL as Green List (high evidence)
Red cell disorders v0.155 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
Red cell disorders v0.154 VHL Zornitza Stark gene: VHL was added
gene: VHL was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: VHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VHL were set to 12844285; 21454469; 24729484; 23403324
Phenotypes for gene: VHL were set to Erythrocytosis, familial, 2, MIM# 263400
Mode of pathogenicity for gene: VHL was set to Other
Review for gene: VHL was set to GREEN
Added comment: Well established gene-disease association. Bi-allelic missense variants, postulated to be hypomorphic.

Note mono-allelic variants associated with Von Hippel Lindau syndrome.
Sources: Expert list
Red cell disorders v0.153 SF3B1 Danielle Ariti reviewed gene: SF3B1: Rating: RED; Mode of pathogenicity: Other; Publications: 21995386, 21909114; Phenotypes: Myelodysplastic syndrome, somatic MIM# 614286; Mode of inheritance: Other
Red cell disorders v0.153 CYB5A Danielle Ariti reviewed gene: CYB5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22170710, 20080843, 32051920, 3951505; Phenotypes: Methemoglobinaemia and ambiguous genitalia MIM#250790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.153 EPOR Zornitza Stark Marked gene: EPOR as ready
Red cell disorders v0.153 EPOR Zornitza Stark Gene: epor has been classified as Green List (High Evidence).
Red cell disorders v0.153 EPOR Zornitza Stark Classified gene: EPOR as Green List (high evidence)
Red cell disorders v0.153 EPOR Zornitza Stark Gene: epor has been classified as Green List (High Evidence).
Red cell disorders v0.152 EPOR Zornitza Stark gene: EPOR was added
gene: EPOR was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: EPOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPOR were set to 8506290; 9292543; 30507031; 33061762
Phenotypes for gene: EPOR were set to [Erythrocytosis, familial, 1], MIM# 133100
Review for gene: EPOR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Red cell disorders v0.151 FTCD Danielle Ariti reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29178637, 30740726, 5301410; Phenotypes: Glutamate formiminotransferase deficiency MIM# 229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.151 EPO Zornitza Stark Marked gene: EPO as ready
Red cell disorders v0.151 EPO Zornitza Stark Gene: epo has been classified as Green List (High Evidence).
Red cell disorders v0.151 EPO Zornitza Stark Classified gene: EPO as Green List (high evidence)
Red cell disorders v0.151 EPO Zornitza Stark Gene: epo has been classified as Green List (High Evidence).
Red cell disorders v0.150 EPO Zornitza Stark gene: EPO was added
gene: EPO was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: EPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPO were set to 27651169; 29514032; 32130275; 20700488; 30507031; 28283061
Phenotypes for gene: EPO were set to Erythrocytosis, familial, 5, MIM# 617907; Diamond-Blackfan anaemia-like, MIM# 617911
Review for gene: EPO was set to GREEN
Added comment: More than 5 unrelated families reported, though note one paper has been retracted.

Single family with bi-allelic variants and a DBA phenotype.
Sources: Expert list
Red cell disorders v0.149 EPAS1 Zornitza Stark Marked gene: EPAS1 as ready
Red cell disorders v0.149 EPAS1 Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence).
Red cell disorders v0.149 EPAS1 Zornitza Stark Classified gene: EPAS1 as Green List (high evidence)
Red cell disorders v0.149 EPAS1 Zornitza Stark Gene: epas1 has been classified as Green List (High Evidence).
Red cell disorders v0.148 EPAS1 Zornitza Stark gene: EPAS1 was added
gene: EPAS1 was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473
Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, MIM# 611783
Mode of pathogenicity for gene: EPAS1 was set to Other
Review for gene: EPAS1 was set to GREEN
Added comment: Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma.
Sources: Expert list
Red cell disorders v0.147 EGLN1 Zornitza Stark Marked gene: EGLN1 as ready
Red cell disorders v0.147 EGLN1 Zornitza Stark Gene: egln1 has been classified as Green List (High Evidence).
Red cell disorders v0.147 EGLN1 Zornitza Stark Classified gene: EGLN1 as Green List (high evidence)
Red cell disorders v0.147 EGLN1 Zornitza Stark Gene: egln1 has been classified as Green List (High Evidence).
Red cell disorders v0.146 EGLN1 Zornitza Stark gene: EGLN1 was added
gene: EGLN1 was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: EGLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EGLN1 were set to 19092153; 16407130; 17579185
Phenotypes for gene: EGLN1 were set to Erythrocytosis, familial, 3, MIM# 609820
Review for gene: EGLN1 was set to GREEN
Added comment: At least 3 unrelated families reported.
Sources: Expert list
Red cell disorders v0.145 BPGM Zornitza Stark Marked gene: BPGM as ready
Red cell disorders v0.145 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.145 BPGM Zornitza Stark Classified gene: BPGM as Amber List (moderate evidence)
Red cell disorders v0.145 BPGM Zornitza Stark Gene: bpgm has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.144 BPGM Zornitza Stark gene: BPGM was added
gene: BPGM was added to Red cell disorders. Sources: Expert list
Mode of inheritance for gene: BPGM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BPGM were set to 1421379; 27651169; 25015942
Phenotypes for gene: BPGM were set to Erythrocytosis, familial, 8, MIM# 222800
Review for gene: BPGM was set to AMBER
Added comment: Mixture of mono-allelic and bi-allelic variants reported, MOI uncertain.
Sources: Expert list
Red cell disorders v0.143 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Red cell disorders v0.143 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Red cell disorders v0.143 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Red cell disorders v0.142 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Red cell disorders v0.141 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.141 STEAP3 Zornitza Stark Marked gene: STEAP3 as ready
Red cell disorders v0.141 STEAP3 Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence).
Red cell disorders v0.141 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from hypochromic anaemia to Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234
Red cell disorders v0.140 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to
Red cell disorders v0.139 STEAP3 Zornitza Stark Mode of inheritance for gene: STEAP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.138 STEAP3 Zornitza Stark Classified gene: STEAP3 as Red List (low evidence)
Red cell disorders v0.138 STEAP3 Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence).
Red cell disorders v0.137 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Red cell disorders v0.137 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Red cell disorders v0.137 PGK1 Zornitza Stark Phenotypes for gene: PGK1 were changed from 300653 Phosphoglycerate kinase 1 deficiency to Phosphoglycerate kinase 1 deficiency MIM# 300653
Red cell disorders v0.136 PGK1 Zornitza Stark Publications for gene: PGK1 were set to 16740138; 6412025
Red cell disorders v0.135 PGK1 Zornitza Stark Classified gene: PGK1 as Green List (high evidence)
Red cell disorders v0.135 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Red cell disorders v0.134 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Red cell disorders v0.134 LARS2 Zornitza Stark Gene: lars2 has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.134 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021
Red cell disorders v0.133 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Red cell disorders v0.132 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.131 SLC4A1 Zornitza Stark Marked gene: SLC4A1 as ready
Red cell disorders v0.131 SLC4A1 Zornitza Stark Gene: slc4a1 has been classified as Green List (High Evidence).
Red cell disorders v0.131 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; RBC membrane abnormality; 166900 Ovalocytosis, SA type; Haemolytic Anemia; Cryohydrocytosis,185020; 612653 Spherocytosis, type 4; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653 to Cryohydrocytosis MIM# 185020; Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Ovalocytosis, SA type MIM# 166900; Spherocytosis, type 4 MIM# 612653
Red cell disorders v0.130 SLC4A1 Zornitza Stark Publications for gene: SLC4A1 were set to 1722314
Red cell disorders v0.129 SLC4A1 Zornitza Stark Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.128 STEAP3 Danielle Ariti reviewed gene: STEAP3: Rating: RED; Mode of pathogenicity: None; Publications: 22031863, 25515317, 26675350; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.128 PGK1 Danielle Ariti reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28580215, 20151463; Phenotypes: Phosphoglycerate kinase 1 deficiency MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.128 LARS2 Danielle Ariti reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.128 SLC4A1 Danielle Ariti reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16227998, 15211439, 10926824, 7949112, 16392641, 8640229, 16227998, 8640229, 16227998; Phenotypes: Cryohydrocytosis MIM# 185020, Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590, Ovalocytosis, SA type MIM# 166900, Spherocytosis, type 4 MIM# 612653; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.128 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Red cell disorders v0.128 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Red cell disorders v0.128 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from Diamond-Blackfan anemia 11, MIM# 614900 to Diamond-Blackfan anaemia 11, MIM# 614900
Red cell disorders v0.127 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11 to Diamond-Blackfan anemia 11, MIM# 614900
Red cell disorders v0.126 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Red cell disorders v0.126 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Red cell disorders v0.125 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Red cell disorders v0.125 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Red cell disorders v0.125 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from Diamond-Blackfan anemia 12, MIM# 615550 to Diamond-Blackfan anaemia 12, MIM# 615550
Red cell disorders v0.124 RPL15 Zornitza Stark Phenotypes for gene: RPL15 were changed from 615550 ?Diamond-Blackfan anaemia 12; ?Diamond-Blackfan anemia 12, 615550; 615550 ?Diamond-Blackfan anemia 1 to Diamond-Blackfan anemia 12, MIM# 615550
Red cell disorders v0.123 RPL15 Zornitza Stark Publications for gene: RPL15 were set to 23812780
Red cell disorders v0.122 RPL15 Zornitza Stark Mode of inheritance for gene: RPL15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.121 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Red cell disorders v0.121 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Red cell disorders v0.121 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Red cell disorders v0.120 PKLR Zornitza Stark Marked gene: PKLR as ready
Red cell disorders v0.120 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Red cell disorders v0.120 PKLR Zornitza Stark Phenotypes for gene: PKLR were changed from 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; Pyruvate kinase deficiency to Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900; Pyruvate kinase deficiency, MIM# 266200
Red cell disorders v0.119 PKLR Zornitza Stark Mode of inheritance for gene: PKLR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.118 PKLR Zornitza Stark reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900, Pyruvate kinase deficiency, MIM# 266200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.118 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Red cell disorders v0.118 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Red cell disorders v0.118 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380
Red cell disorders v0.117 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 22529292; 23695678
Red cell disorders v0.116 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.115 PIEZO1 Zornitza Stark reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944700, 23695678, 23479567; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.115 PFKM Zornitza Stark Marked gene: PFKM as ready
Red cell disorders v0.115 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Red cell disorders v0.115 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease VII, 232800; 232800 Glycogen storage disease VII to Glycogen storage disease VII, MIM# 232800
Red cell disorders v0.114 PFKM Zornitza Stark Publications for gene: PFKM were set to 7513946; 2140573
Red cell disorders v0.113 PFKM Zornitza Stark reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24427140, 27066546, 30792690; Phenotypes: Glycogen storage disease VII, MIM# 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.113 NT5C3A Zornitza Stark Marked gene: NT5C3A as ready
Red cell disorders v0.113 NT5C3A Zornitza Stark Gene: nt5c3a has been classified as Green List (High Evidence).
Red cell disorders v0.113 NT5C3A Zornitza Stark Phenotypes for gene: NT5C3A were changed from Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120
Red cell disorders v0.112 NT5C3A Zornitza Stark Publications for gene: NT5C3A were set to 11369620; 12714505
Red cell disorders v0.111 NT5C3A Zornitza Stark reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.111 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Red cell disorders v0.111 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Red cell disorders v0.111 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Red cell disorders v0.110 PUS1 Zornitza Stark Publications for gene: PUS1 were set to 15108122; 15772074
Red cell disorders v0.109 PUS1 Zornitza Stark edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Red cell disorders v0.109 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Red cell disorders v0.109 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Red cell disorders v0.109 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 to Anaemia, sideroblastic, 4, MIM# 182170
Red cell disorders v0.108 HSPA9 Zornitza Stark reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26491070; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.108 KCNN4 Zornitza Stark Marked gene: KCNN4 as ready
Red cell disorders v0.108 KCNN4 Zornitza Stark Gene: kcnn4 has been classified as Green List (High Evidence).
Red cell disorders v0.108 KCNN4 Zornitza Stark Phenotypes for gene: KCNN4 were changed from Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2 to Dehydrated hereditary stomatocytosis 2, MIM# 616689
Red cell disorders v0.107 KCNN4 Zornitza Stark Publications for gene: KCNN4 were set to 26148990; 26178367
Red cell disorders v0.106 KCNN4 Zornitza Stark Mode of inheritance for gene: KCNN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.105 KCNN4 Zornitza Stark reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26148990, 26198474, 26178367, 33519508, 31091145, 28619848; Phenotypes: Dehydrated hereditary stomatocytosis 2, MIM# 616689; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.105 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Red cell disorders v0.105 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Red cell disorders v0.105 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from 613673 Congenital dyserythropoietic anaemia type 4; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Red cell disorders v0.104 KLF1 Zornitza Stark Publications for gene: KLF1 were set to 21055716; 29200155
Red cell disorders v0.103 HK1 Zornitza Stark Marked gene: HK1 as ready
Red cell disorders v0.103 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Red cell disorders v0.103 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder to Haemolytic anaemia due to hexokinase deficiency, MIM# 235700
Red cell disorders v0.102 HK1 Zornitza Stark Publications for gene: HK1 were set to 7655856; 12393545
Red cell disorders v0.101 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7655856, 12393545, 33361148, 31119733, 27282571; Phenotypes: Haemolytic anaemia due to hexokinase deficiency, MIM# 235700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.101 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Red cell disorders v0.101 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Red cell disorders v0.101 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III to Congenital dyserythropoietic anemia type III
Red cell disorders v0.100 KIF23 Zornitza Stark Classified gene: KIF23 as Red List (low evidence)
Red cell disorders v0.100 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Red cell disorders v0.99 MTRR Zornitza Stark Marked gene: MTRR as ready
Red cell disorders v0.99 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Red cell disorders v0.99 MTRR Zornitza Stark Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270
Red cell disorders v0.98 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555939, 15714522; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.98 MTR Zornitza Stark Marked gene: MTR as ready
Red cell disorders v0.98 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Red cell disorders v0.98 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Red cell disorders v0.97 MTR Zornitza Stark Publications for gene: MTR were set to 9683607; 12068375
Red cell disorders v0.96 MTR Zornitza Stark reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.96 LPIN2 Zornitza Stark Marked gene: LPIN2 as ready
Red cell disorders v0.96 LPIN2 Zornitza Stark Gene: lpin2 has been classified as Green List (High Evidence).
Red cell disorders v0.96 LPIN2 Zornitza Stark Phenotypes for gene: LPIN2 were changed from Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
Red cell disorders v0.95 LPIN2 Zornitza Stark Publications for gene: LPIN2 were set to 17330256; 15994876
Red cell disorders v0.94 LPIN2 Zornitza Stark reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15994876, 33993107, 33670882, 33314777, 31727123; Phenotypes: Majeed syndrome, MIM# 609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.94 RHAG Zornitza Stark Marked gene: RHAG as ready
Red cell disorders v0.94 RHAG Zornitza Stark Gene: rhag has been classified as Green List (High Evidence).
Red cell disorders v0.94 RHAG Zornitza Stark Phenotypes for gene: RHAG were changed from Stomatocytosis; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 185000 Overhydrated hereditary stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 268150 Anemia, hemolytic, Rh-null, regulator type to Anaemia, haemolytic, Rh-null, regulator type MIM# 268150; Overhydrated hereditary stomatocytosis MIM#185000
Red cell disorders v0.93 RHAG Zornitza Stark Publications for gene: RHAG were set to 18931342
Red cell disorders v0.92 SLC11A2 Zornitza Stark Marked gene: SLC11A2 as ready
Red cell disorders v0.92 SLC11A2 Zornitza Stark Gene: slc11a2 has been classified as Green List (High Evidence).
Red cell disorders v0.92 SLC11A2 Zornitza Stark Phenotypes for gene: SLC11A2 were changed from 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 to Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100
Red cell disorders v0.91 SLC11A2 Zornitza Stark Publications for gene: SLC11A2 were set to 16160008; 16439678; 15459009
Red cell disorders v0.90 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Red cell disorders v0.90 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Red cell disorders v0.90 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from Stomatocytosis; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia to Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885; delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia; haemolytic anaemia
Red cell disorders v0.89 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to 22492876; 21791420
Red cell disorders v0.88 SPTA1 Zornitza Stark Marked gene: SPTA1 as ready
Red cell disorders v0.88 SPTA1 Zornitza Stark Gene: spta1 has been classified as Green List (High Evidence).
Red cell disorders v0.88 SPTA1 Zornitza Stark Phenotypes for gene: SPTA1 were changed from 270970 Spherocytosis, type 3; 266140 Pyropoikilocytosis; RBC membrane abnormality; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 130600 Elliptocytosis-2; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970
Red cell disorders v0.87 SPTA1 Zornitza Stark Publications for gene: SPTA1 were set to 1679439; 3940543; 4077050
Red cell disorders v0.86 SPTB Zornitza Stark Marked gene: SPTB as ready
Red cell disorders v0.86 SPTB Zornitza Stark Gene: sptb has been classified as Green List (High Evidence).
Red cell disorders v0.86 SPTB Zornitza Stark Phenotypes for gene: SPTB were changed from 617948 Elliptocytosis-3; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal; RBC membrane abnormality; 616649 Spherocytosis, type 2; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Elliptocytosis to Spherocytosis, type 2 MIM# 616649; Elliptocytosis-3 MIM# 617948; Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948
Red cell disorders v0.85 SPTB Zornitza Stark Publications for gene: SPTB were set to 8226774; 3276733
Red cell disorders v0.84 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Red cell disorders v0.84 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Red cell disorders v0.84 TCN2 Zornitza Stark Phenotypes for gene: TCN2 were changed from megaloblastic bone marrow; neutropenia; thrombocytopenia; 275350 Transcobalamin II deficiency; Agammaglobulinemia; pancytopenia; neutropenic colitis; failure to thrive; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow to Transcobalamin II deficiency MIM# 275350; Decreased Ig levels; Megaloblastic anaemia; pancytopaenia; Reticulocytopaenia; failure to thrive; diarrhoea; hypogammaglobulinaemia; pallor; hypotonia; respiratory infection; if untreated (B12) for prolonged periods results in intellectual disability
Red cell disorders v0.83 TCN2 Zornitza Stark Publications for gene: TCN2 were set to 10518276; 7849710
Red cell disorders v0.82 TF Zornitza Stark Marked gene: TF as ready
Red cell disorders v0.82 TF Zornitza Stark Gene: tf has been classified as Green List (High Evidence).
Red cell disorders v0.82 TF Zornitza Stark Phenotypes for gene: TF were changed from Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia to Atransferrinaemia MIM# 209300; iron overload; hypochromic anaemia; low serum transferrin; Hemosiderosis of the heart and/or liver; Congestive heart failure
Red cell disorders v0.81 RHAG Danielle Ariti reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30990901, 28470789, 4962358, 18931342, 21849667, 23406318; Phenotypes: Anaemia, haemolytic, Rh-null, regulator type MIM# 268150, Overhydrated hereditary stomatocytosis MIM#185000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.81 SLC11A2 Danielle Ariti reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21871825, 15459009; Phenotypes: Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.81 SLC2A1 Danielle Ariti reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27353637; Phenotypes: Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885, delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia, haemolytic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.81 HBD Zornitza Stark Marked gene: HBD as ready
Red cell disorders v0.81 HBD Zornitza Stark Gene: hbd has been classified as Green List (High Evidence).
Red cell disorders v0.81 HBD Zornitza Stark Phenotypes for gene: HBD were changed from Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta to Thalassaemia, delta-; Thalassaemia due to Hb Lepore
Red cell disorders v0.80 HBD Zornitza Stark reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassaemia, delta-, Thalassaemia due to Hb Lepore; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v0.80 HBB Zornitza Stark Marked gene: HBB as ready
Red cell disorders v0.80 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Red cell disorders v0.80 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 613985 Thalassemia, beta; Erythremias, beta-; 603902 Thalassemia-beta, dominant inclusion-body; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; 603902 Dominand inclusion body beta thalassaemia; 603903 Sickle cell disease; 141749 Delta-beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; 613985 Beta thalassaemia; Methemoglobinemias, beta- to Thalassemia, beta, MIM# 613985; Sickle cell anaemia, MIM# 603903; Methaemoglobinaemia, beta type, MIM# 617971; Hereditary persistence of fetal haemoglobin, MIM# 141749; Heinz body anaemia, MIM# 140700; Erythrocytosis 6, MIM# 617980
Red cell disorders v0.79 HBB Zornitza Stark reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, beta, MIM# 613985, Sickle cell anaemia, MIM# 603903, Methaemoglobinaemia, beta type, MIM# 617971, Hereditary persistence of fetal haemoglobin, MIM# 141749, Heinz body anaemia, MIM# 140700, Erythrocytosis 6, MIM# 617980; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.79 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Red cell disorders v0.79 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Red cell disorders v0.79 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from Hypochromic microcytic anemia; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Erythrocytosis; 60413 Thalassemia, alpha; Heinz body anemia,140700; Thalassemia, alpha-, 604131 to Thalassemia, alpha-, MIM# 604131; Heinz body anaemia, MIM# 140700; Erythrocytosis 7, MIM# 617981
Red cell disorders v0.78 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131, Heinz body anaemia, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.78 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Red cell disorders v0.78 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Red cell disorders v0.78 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Methemoglobinemias, alpha- to Thalassemias, alpha-, MIM# 604131; Heinz body anemias, alpha-, MIM# 140700; Erythrocytosis 7, MIM# 617981
Red cell disorders v0.77 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha-, MIM# 604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.77 GSS Zornitza Stark Marked gene: GSS as ready
Red cell disorders v0.77 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Red cell disorders v0.77 GSS Zornitza Stark Phenotypes for gene: GSS were changed from 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; 266130 Glutathione synthetase deficiency; Enzyme Disorder; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency to Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900
Red cell disorders v0.76 GSS Zornitza Stark Publications for gene: GSS were set to 8896573
Red cell disorders v0.75 GSS Zornitza Stark reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896573, 31198081, 29395598, 29340523, 28267090; Phenotypes: Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.75 SPTA1 Danielle Ariti reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9075575, 8018926, 29484404, 27667160, 31333484, 8941647, 3785322; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.75 SPTB Danielle Ariti reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19538529, 8102379, 9075575, 7883966, 9005995, 32256302; Phenotypes: Spherocytosis, type 2 MIM# 616649, Elliptocytosis-3 MIM# 617948, Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.75 TCN2 Danielle Ariti reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM# 275350, Decreased Ig levels, Megaloblastic anaemia, pancytopaenia, Reticulocytopaenia, failure to thrive, diarrhoea, hypogammaglobulinaemia, pallor, hypotonia, respiratory infection, if untreated (B12) for prolonged periods results in intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.75 TF Danielle Ariti reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: None; Publications: 11110675, 3472216; Phenotypes: Atransferrinaemia MIM# 209300, iron overload, hypochromic anaemia, low serum transferrin, Hemosiderosis of the heart and/or liver, Congestive heart failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.75 GSR Zornitza Stark Marked gene: GSR as ready
Red cell disorders v0.75 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.75 GSR Zornitza Stark Phenotypes for gene: GSR were changed from Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder; NA Enzyme Disorder to Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660
Red cell disorders v0.74 GSR Zornitza Stark Publications for gene: GSR were set to 8533822
Red cell disorders v0.73 GSR Zornitza Stark Classified gene: GSR as Amber List (moderate evidence)
Red cell disorders v0.73 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Red cell disorders v0.72 GSR Zornitza Stark reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 17185460, 31122244; Phenotypes: Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.72 GPI Zornitza Stark Marked gene: GPI as ready
Red cell disorders v0.72 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Red cell disorders v0.72 GPI Zornitza Stark Phenotypes for gene: GPI were changed from 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 to Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Red cell disorders v0.71 GPI Zornitza Stark Publications for gene: GPI were set to 411100
Red cell disorders v0.70 GPI Zornitza Stark reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 8499925, 9856489, 32103498; Phenotypes: Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.70 UMPS Zornitza Stark Marked gene: UMPS as ready
Red cell disorders v0.70 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Red cell disorders v0.70 UMPS Zornitza Stark Phenotypes for gene: UMPS were changed from 258900 Orotic aciduria with megaloblastic anaemia to Orotic aciduria MIM# 258900; megaloblastic anaemia; orotic acid crystalluria; ID; immunodeficiencies
Red cell disorders v0.69 UMPS Zornitza Stark Publications for gene: UMPS were set to 9042911
Red cell disorders v0.68 TMPRSS6 Zornitza Stark Marked gene: TMPRSS6 as ready
Red cell disorders v0.68 TMPRSS6 Zornitza Stark Gene: tmprss6 has been classified as Green List (High Evidence).
Red cell disorders v0.68 TMPRSS6 Zornitza Stark Phenotypes for gene: TMPRSS6 were changed from Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia to Iron-refractory iron deficiency anaemia MIM# 206200; Iron malabsorption; hypochromic microcytic anaemia
Red cell disorders v0.67 TMPRSS6 Zornitza Stark Publications for gene: TMPRSS6 were set to 18408718
Red cell disorders v0.66 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Red cell disorders v0.66 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Red cell disorders v0.66 TPI1 Zornitza Stark Phenotypes for gene: TPI1 were changed from 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512; chronic haemolytic anaemia; neuromuscular dysfunction; intracellular accumulation of dihydroxyacetone phosphate (DHAP)
Red cell disorders v0.65 TPI1 Zornitza Stark Publications for gene: TPI1 were set to 11698297; 9338582
Red cell disorders v0.64 TMPRSS6 Danielle Ariti reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18408718, 8596229, 18596229, 19592582; Phenotypes: Iron-refractory iron deficiency anaemia MIM# 206200, Iron malabsorption, hypochromic microcytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.64 TPI1 Danielle Ariti reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582, 32873690, 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM# 615512, chronic hemolytic anaemia, neuromuscular dysfunction, intracellular accumulation of dihydroxyacetone phosphate (DHAP); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.64 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Red cell disorders v0.64 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Red cell disorders v0.64 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from 616860 Pyridoxine refractory sideroblastic anaemia 3; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Red cell disorders v0.63 GLRX5 Zornitza Stark Publications for gene: GLRX5 were set to 20364084; 25342667; 17485548
Red cell disorders v0.62 GLRX5 Zornitza Stark changed review comment from: Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit. At least three unrelated individuals reported.; to: Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anaemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit. At least three unrelated individuals reported.
Red cell disorders v0.62 GIF Zornitza Stark Marked gene: GIF as ready
Red cell disorders v0.62 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Red cell disorders v0.62 GIF Zornitza Stark Phenotypes for gene: GIF were changed from 261000 Intrinsic factor deficiency to Intrinsic factor deficiency, MIM# 261000
Red cell disorders v0.61 GIF Zornitza Stark Publications for gene: GIF were set to 15738392; 14576042
Red cell disorders v0.60 GIF Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14695536, 14576042, 15738392; Phenotypes: Intrinsic factor deficiency, MIM# 261000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.60 UMPS Danielle Ariti reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9042911, 33489760; Phenotypes: Orotic aciduria MIM# 258900, megaloblastic anaemia, orotic acid crystalluria, ID, immunodeficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.60 GCLC Zornitza Stark Marked gene: GCLC as ready
Red cell disorders v0.60 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Red cell disorders v0.60 GCLC Zornitza Stark Phenotypes for gene: GCLC were changed from Haemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 to Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
Red cell disorders v0.59 GCLC Zornitza Stark Phenotypes for gene: GCLC were changed from 230450 Glutamate-cysteine ligase deficiency; Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; Glutamate-cysteine ligase deficiency; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency to Haemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
Red cell disorders v0.58 GCLC Zornitza Stark Publications for gene: GCLC were set to 10515893
Red cell disorders v0.57 GCLC Zornitza Stark reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10515893, 28571779; Phenotypes: Haemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.57 YARS2 Zornitza Stark Marked gene: YARS2 as ready
Red cell disorders v0.57 YARS2 Zornitza Stark Gene: yars2 has been classified as Green List (High Evidence).
Red cell disorders v0.57 YARS2 Zornitza Stark Phenotypes for gene: YARS2 were changed from 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Red cell disorders v0.56 YARS2 Zornitza Stark Publications for gene: YARS2 were set to 23918765; 22504945; 20598274
Red cell disorders v0.55 XK Danielle Ariti reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004674, 30128557, 30800707; Phenotypes: McLeod syndrome with or without chronic granulomatous disease MIM# 300842, absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, neuroacanthocytosis (peripheral and central nervous systems), cardiovascular abnormalities, myopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.55 YARS2 Danielle Ariti reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.55 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Red cell disorders v0.55 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Red cell disorders v0.55 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Red cell disorders v0.54 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Myelodysplastic syndrome (MDS), Paediatric; Diamond-Blackfan anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; 300367 Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 to Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Red cell disorders v0.53 GATA1 Zornitza Stark edited their review of gene: GATA1: Changed publications: 30228860, 24766296, 22706301
Red cell disorders v0.53 GATA1 Zornitza Stark edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Red cell disorders v0.53 G6PD Zornitza Stark Marked gene: G6PD as ready
Red cell disorders v0.53 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Red cell disorders v0.53 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from Haemolytic anemia, G6PD deficient (favism), MIM# 300908 to Haemolytic anaemia, G6PD deficient (favism), MIM# 300908
Red cell disorders v0.52 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 to Haemolytic anemia, G6PD deficient (favism), MIM# 300908
Red cell disorders v0.51 G6PD Zornitza Stark reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Red cell disorders v0.51 EPB42 Zornitza Stark Marked gene: EPB42 as ready
Red cell disorders v0.51 EPB42 Zornitza Stark Gene: epb42 has been classified as Green List (High Evidence).
Red cell disorders v0.51 EPB42 Zornitza Stark Phenotypes for gene: EPB42 were changed from Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis to Spherocytosis, type 5, MIM# 612690
Red cell disorders v0.50 EPB42 Zornitza Stark Publications for gene: EPB42 were set to 12176912; 7772513; 1558976
Red cell disorders v0.49 EPB42 Zornitza Stark edited their review of gene: EPB42: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.49 EPB42 Zornitza Stark reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: None; Publications: 1558976, 7803799, 7772513; Phenotypes: Spherocytosis, type 5, MIM# 612690; Mode of inheritance: None
Red cell disorders v0.49 EPB41 Zornitza Stark Marked gene: EPB41 as ready
Red cell disorders v0.49 EPB41 Zornitza Stark Gene: epb41 has been classified as Green List (High Evidence).
Red cell disorders v0.49 EPB41 Zornitza Stark Phenotypes for gene: EPB41 were changed from Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis to Elliptocytosis-1, MIM# 611804
Red cell disorders v0.48 EPB41 Zornitza Stark Publications for gene: EPB41 were set to 8423235; 1430200; 3134067
Red cell disorders v0.47 EPB41 Zornitza Stark Mode of inheritance for gene: EPB41 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.46 EPB41 Zornitza Stark reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942936, 32807033, 27667160, 21839655; Phenotypes: Elliptocytosis-1, MIM# 611804; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.46 DHFR Zornitza Stark Marked gene: DHFR as ready
Red cell disorders v0.46 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Red cell disorders v0.46 DHFR Zornitza Stark Phenotypes for gene: DHFR were changed from Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Red cell disorders v0.45 DHFR Zornitza Stark reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310276, 21310277; Phenotypes: Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.45 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Red cell disorders v0.45 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Green List (High Evidence).
Red cell disorders v0.45 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from Methemoglobinaemia, type I and II, MIM# 250800 to Methaemoglobinaemia, type I and II, MIM# 250800
Red cell disorders v0.44 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II to Methemoglobinaemia, type I and II, MIM# 250800
Red cell disorders v0.43 CYB5R3 Zornitza Stark Publications for gene: CYB5R3 were set to 18318771; 15921385
Red cell disorders v0.42 CYB5R3 Zornitza Stark reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2107882, 1707593, 12393396; Phenotypes: Methemoglobinaemia, type I and II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.42 CUBN Zornitza Stark Marked gene: CUBN as ready
Red cell disorders v0.42 CUBN Zornitza Stark Gene: cubn has been classified as Green List (High Evidence).
Red cell disorders v0.42 CUBN Zornitza Stark Phenotypes for gene: CUBN were changed from Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia; 261100 Megaloblastic anemia-1, Finnish type to Imerslund-Grasbeck syndrome 1, MIM# 261100
Red cell disorders v0.41 CUBN Zornitza Stark Publications for gene: CUBN were set to 17285242; 15024727
Red cell disorders v0.40 CUBN Zornitza Stark reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080186, 21208123, 17668238]; Phenotypes: Imerslund-Grasbeck syndrome 1, MIM# 261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.40 COX4I2 Zornitza Stark changed review comment from: Missense variant reported in 4 affected individuals from 2 consanguineous families however the variant is also found in the gnomAD database (186 hets; 3 homs).; to: Missense variant reported in 4 affected individuals from 2 consanguineous families however the variant is also found in the gnomAD database (186 hets; 3 homs). Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.
Red cell disorders v0.40 COX4I2 Zornitza Stark Marked gene: COX4I2 as ready
Red cell disorders v0.40 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Red cell disorders v0.40 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from 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; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Red cell disorders v0.39 COX4I2 Zornitza Stark Publications for gene: COX4I2 were set to 19268275
Red cell disorders v0.38 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Red cell disorders v0.38 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Red cell disorders v0.37 COX4I2 Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.37 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Red cell disorders v0.37 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Red cell disorders v0.37 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120 to Dyserythropoietic anaemia, congenital, type Ia, 224120
Red cell disorders v0.36 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to 16098079; 12434312
Red cell disorders v0.35 CDAN1 Zornitza Stark edited their review of gene: CDAN1: Changed phenotypes: Dyserythropoietic anaemia, congenital, type Ia, 224120
Red cell disorders v0.35 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Red cell disorders v0.35 ALDOA Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence).
Red cell disorders v0.35 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from Enzyme Disorder; Glycogen storage disease; Aldolase A deficiency; 611881 Aldolase A deficiency; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency to Glycogen storage disease XII , MIM#611881
Red cell disorders v0.34 ALDOA Zornitza Stark Publications for gene: ALDOA were set to 8598869; 7331996
Red cell disorders v0.33 ALDOA Zornitza Stark reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7331996, 8598869, 25392908; Phenotypes: Glycogen storage disease XII , MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.33 CD59 Zornitza Stark changed review comment from: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Intermittent episodes of haemolysis.; to: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Intermittent episodes of haemolysis.

More than 5 unrelated families reported.
Red cell disorders v0.33 CD59 Zornitza Stark Marked gene: CD59 as ready
Red cell disorders v0.33 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Red cell disorders v0.33 CD59 Zornitza Stark Phenotypes for gene: CD59 were changed from Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked to Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300
Red cell disorders v0.32 CD59 Zornitza Stark reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24382084, 23149847; Phenotypes: Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.32 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Red cell disorders v0.32 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Red cell disorders v0.32 C15orf41 Zornitza Stark Phenotypes for gene: C15orf41 were changed from 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631
Red cell disorders v0.31 C15orf41 Zornitza Stark Publications for gene: C15orf41 were set to 29031773; 23716552; 29885034
Red cell disorders v0.30 C15orf41 Zornitza Stark edited their review of gene: C15orf41: Changed phenotypes: Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631
Red cell disorders v0.30 ANK1 Zornitza Stark Marked gene: ANK1 as ready
Red cell disorders v0.30 ANK1 Zornitza Stark Gene: ank1 has been classified as Green List (High Evidence).
Red cell disorders v0.30 ANK1 Zornitza Stark Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality to Spherocytosis, type 1, MIM# 182900
Red cell disorders v0.29 ANK1 Zornitza Stark Publications for gene: ANK1 were set to 7883994; 9590147; 11167760
Red cell disorders v0.28 ANK1 Zornitza Stark reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640229; Phenotypes: Spherocytosis, type 1, MIM# 182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Red cell disorders v0.28 AMN Zornitza Stark Marked gene: AMN as ready
Red cell disorders v0.28 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Red cell disorders v0.28 AMN Zornitza Stark Phenotypes for gene: AMN were changed from 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 to Imerslund-Grasbeck syndrome 2, MIM# 618882
Red cell disorders v0.27 AMN Zornitza Stark Publications for gene: AMN were set to 17285242; 12590260
Red cell disorders v0.26 AMN Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326; Phenotypes: Imerslund-Grasbeck syndrome 2, MIM# 618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.26 AK1 Zornitza Stark Marked gene: AK1 as ready
Red cell disorders v0.26 AK1 Zornitza Stark Gene: ak1 has been classified as Green List (High Evidence).
Red cell disorders v0.26 AK1 Zornitza Stark Phenotypes for gene: AK1 were changed from 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 to Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631
Red cell disorders v0.25 AK1 Zornitza Stark Publications for gene: AK1 were set to 28211224
Red cell disorders v0.24 AK1 Zornitza Stark reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2542324, 9432020, 10233365, 34321014; Phenotypes: Haemolytic anemia due to adenylate kinase deficiency, MIM# 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.24 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Red cell disorders v0.24 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Red cell disorders v0.24 ALAS2 Zornitza Stark Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Sideroblastic anaemia 1; 300751 Anemia, sideroblastic, 1 to Anaemia, sideroblastic, 1, MIM# 300751
Red cell disorders v0.23 ALAS2 Zornitza Stark Publications for gene: ALAS2 were set to 10029606
Red cell disorders v0.22 ALAS2 Zornitza Stark edited their review of gene: ALAS2: Added comment: The essential features of X-linked sideroblastic anemia include: (1) a hypochromic microcytic anaemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable haematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade.

Well established gene-disease association.; Changed publications: 10029606, 7949148, 10029606
Red cell disorders v0.22 ALAS2 Zornitza Stark edited their review of gene: ALAS2: Changed phenotypes: Anaemia, sideroblastic, 1, MIM# 300751
Red cell disorders v0.22 ABCG8 Zornitza Stark Marked gene: ABCG8 as ready
Red cell disorders v0.22 ABCG8 Zornitza Stark Gene: abcg8 has been classified as Green List (High Evidence).
Red cell disorders v0.22 ABCG8 Zornitza Stark Phenotypes for gene: ABCG8 were changed from 210250 sitosterolaemia; sitosterolaemia to Sitosterolemia 1, MIM# 210250
Red cell disorders v0.21 ABCG8 Zornitza Stark Publications for gene: ABCG8 were set to
Red cell disorders v0.20 ABCG8 Zornitza Stark reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34304999, 33907061, 33807969; Phenotypes: Sitosterolemia 1, MIM# 210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.20 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Red cell disorders v0.20 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Red cell disorders v0.20 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from Diamond Blackfan anaemia to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Red cell disorders v0.19 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Red cell disorders v0.18 ADA2 Zornitza Stark changed review comment from: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency.

At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.; to: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency.

At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.

Anaemia is a reported feature.
Red cell disorders v0.18 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Red cell disorders v0.18 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Red cell disorders v0.18 ABCG5 Zornitza Stark Publications for gene: ABCG5 were set to 32546081; 23556150
Red cell disorders v0.17 ABCG5 Zornitza Stark edited their review of gene: ABCG5: Changed publications: 34304999, 33907061, 32546081, 23556150
Red cell disorders v0.17 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from 210250 sitosterolaemia; sitosterolaemia to Sitosterolaemia 2, MIM# 618666
Red cell disorders v0.16 ABCG5 Zornitza Stark Publications for gene: ABCG5 were set to
Red cell disorders v0.15 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32546081, 23556150; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Red cell disorders v0.14 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Red cell disorders v0.14 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Red cell disorders v0.14 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia to Anaemia, sideroblastic, with ataxia, MIM# 301310
Red cell disorders v0.13 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to 11843825; 4045952; 11050011
Red cell disorders v0.12 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 11050011, 34354969; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.11 Zornitza Stark Panel name changed from Rare anaemia_GEL to Red cell disorders
Red cell disorders v0.10 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Red cell disorders v0.10 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.10 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to X-linked sideroblastic anaemia
Red cell disorders v0.9 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Red cell disorders v0.8 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.7 NDUFB11 Zornitza Stark Classified gene: NDUFB11 as Green List (high evidence)
Red cell disorders v0.7 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Red cell disorders v0.6 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: X-linked sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.6 NDUFB11 Kristin Rigbye reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: Anaemia, XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Red cell disorders v0.6 VPS4A Zornitza Stark Phenotypes for gene: VPS4A were changed from syndromic congenital dyserythropoietic anaemia to CIMDAG syndrome MIM# 619273
Red cell disorders v0.5 VPS4A Zornitza Stark edited their review of gene: VPS4A: Changed phenotypes: CIMDAG syndrome MIM# 619273
Red cell disorders v0.5 SLC19A1 Zornitza Stark Marked gene: SLC19A1 as ready
Red cell disorders v0.5 SLC19A1 Zornitza Stark Gene: slc19a1 has been classified as Red List (Low Evidence).
Red cell disorders v0.5 SLC19A1 Zornitza Stark gene: SLC19A1 was added
gene: SLC19A1 was added to Rare anaemia_GEL. Sources: Expert list
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275
Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775
Review for gene: SLC19A1 was set to RED
Added comment: Single individual reported with in-frame deletion, some functional data.
Sources: Expert list
Red cell disorders v0.4 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.4 VPS4A Zornitza Stark Classified gene: VPS4A as Green List (high evidence)
Red cell disorders v0.4 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Red cell disorders v0.3 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Rare anaemia_GEL. Sources: Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to syndromic congenital dyserythropoietic anaemia
Mode of pathogenicity for gene: VPS4A was set to Other
Review for gene: VPS4A was set to GREEN
Added comment: 6 of 9 reported individuals had anaemia as part of a syndromic neurodevelopmental disorder.
Sources: Literature
Red cell disorders v0.2 Zornitza Stark Panel status changed from deleted to public
Red cell disorders v0.1 SF3B1 Zornitza Stark Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1
Publications for gene SF3B1 were updated from 21995386; 28188970 to 28188970; 21995386
Red cell disorders v0.1 HBE1 Zornitza Stark Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1
Red cell disorders v0.1 GPX1 Zornitza Stark Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1
Red cell disorders v0.1 FTCD Zornitza Stark Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD
Red cell disorders v0.1 DKC1 Zornitza Stark Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
Red cell disorders v0.1 CYB5A Zornitza Stark Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A
Publications for gene CYB5A were updated from 20080843; 8168836 to 8168836; 20080843
Red cell disorders v0.1 ATRX Zornitza Stark Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Publications for gene ATRX were updated from 19444090; 11449489; 17579672 to 19444090; 17579672; 11449489
Red cell disorders v0.1 TSR2 Zornitza Stark Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
Publications for gene TSR2 were updated from 24942156; 20301769 to 20301769; 24942156
Red cell disorders v0.1 STEAP3 Zornitza Stark Added phenotypes hypochromic anaemia for gene: STEAP3
Red cell disorders v0.1 RPS28 Zornitza Stark Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28
Publications for gene RPS28 were updated from 24942156; 20301769 to 20301769; 24942156
Red cell disorders v0.1 RPL18 Zornitza Stark Added phenotypes Diamond-Blackfan anaemia for gene: RPL18
Red cell disorders v0.1 PGK1 Zornitza Stark Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1
Publications for gene PGK1 were updated from 6412025; 16740138 to 16740138; 6412025
Red cell disorders v0.1 NHP2 Zornitza Stark Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
Red cell disorders v0.1 NDUFB11 Zornitza Stark Added phenotypes sideroblastic anaemia for gene: NDUFB11
Red cell disorders v0.1 LARS2 Zornitza Stark Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2
Red cell disorders v0.1 YARS2 Zornitza Stark Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Publications for gene YARS2 were updated from 23918765; 20598274; 22504945 to 23918765; 22504945; 20598274
Red cell disorders v0.1 XK Zornitza Stark Added phenotypes 300842 McLeod syndrome for gene: XK
Publications for gene XK were updated from 11761473; 17683354 to 17683354; 11761473
Red cell disorders v0.1 UMPS Zornitza Stark Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS
Red cell disorders v0.1 TRNT1 Zornitza Stark Added phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; sideroblastic anaemia for gene: TRNT1
Red cell disorders v0.1 TPI1 Zornitza Stark Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency,615512 for gene: TPI1
Publications for gene TPI1 were updated from 9338582; 11698297 to 11698297; 9338582
Red cell disorders v0.1 TMPRSS6 Zornitza Stark Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia; 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6
Red cell disorders v0.1 TF Zornitza Stark Added phenotypes Congenital hypotransferrinemia; Atransferrinemia, 209300; 209300 Congenital hypotransferrinemia for gene: TF
Publications for gene TF were updated from 11110675; 1862777; 8187613; 3472216; 10660486 to 8187613; 1862777; 10660486; 3472216; 11110675
Red cell disorders v0.1 TCN2 Zornitza Stark Added phenotypes megaloblastic bone marrow; thrombocytopenia; 275350 Transcobalamin II deficiency; Agammaglobulinemia; pancytopenia; neutropenic colitis; can have a presentation similar to severe combined immunodeficiency; failure to thrive; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow for gene: TCN2
Publications for gene TCN2 were updated from 7849710; 10518276 to 10518276; 7849710
Red cell disorders v0.1 SPTB Zornitza Stark Added phenotypes 617948 Elliptocytosis-3; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal; RBC membrane abnormality; 616649 Spherocytosis, type 2; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Elliptocytosis for gene: SPTB
Red cell disorders v0.1 SPTA1 Zornitza Stark Added phenotypes 270970 Spherocytosis, type 3; RBC membrane abnormality; 266140 Pyropoikilocytosis; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 130600 Elliptocytosis-2; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 for gene: SPTA1
Red cell disorders v0.1 SLC4A1 Zornitza Stark Added phenotypes 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; RBC membrane abnormality; 166900 Ovalocytosis, SA type; Haemolytic Anemia; Cryohydrocytosis,185020; 612653 Spherocytosis, type 4; Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653 for gene: SLC4A1
Red cell disorders v0.1 SLC2A1 Zornitza Stark Added phenotypes Stomatocytosis; 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Pyridoxine-refractory sideroblastic anemia for gene: SLC2A1
Red cell disorders v0.1 SLC25A38 Zornitza Stark Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2; 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
Red cell disorders v0.1 SLC19A2 Zornitza Stark Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2
Red cell disorders v0.1 SLC11A2 Zornitza Stark Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1; Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Publications for gene SLC11A2 were updated from 15459009; 16439678; 16160008 to 16160008; 16439678; 15459009
Red cell disorders v0.1 SEC23B Zornitza Stark Added phenotypes Congenital Dyserythropoietic Anemia; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; 224100 Congenital dyserythropoietic anaemia type 2 for gene: SEC23B
Red cell disorders v0.1 SBDS Zornitza Stark Added phenotypes 260400 Shwachman-Diamond syndrome; Shwachman-Diamond syndrome for gene: SBDS
Red cell disorders v0.1 RPS7 Zornitza Stark Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 for gene: RPS7
Red cell disorders v0.1 RPS29 Zornitza Stark Added phenotypes Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13 for gene: RPS29
Red cell disorders v0.1 RPS27 Zornitza Stark Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
Publications for gene RPS27 were updated from 23718193; 25424902 to 25424902; 23718193
Red cell disorders v0.1 RPS26 Zornitza Stark Added phenotypes Diamond-Blackfan anemia 10, 613309; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Diamond_Blackfan Anemia 10; 613309 Diamond-Blackfan anemia 10 for gene: RPS26
Publications for gene RPS26 were updated from 23812780; 20116044; 24942156 to 24942156; 20116044; 23812780
Red cell disorders v0.1 RPS24 Zornitza Stark Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia 3; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 3; Diamond_Blackfan Anemia 3; 610629 Diamond_Blackfan Anemia 3; 610629 Diamond-blackfan anemia 3 for gene: RPS24
Red cell disorders v0.1 RPS19 Zornitza Stark Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia for gene: RPS19
Red cell disorders v0.1 RPS17 Zornitza Stark Added phenotypes Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 for gene: RPS17
Publications for gene RPS17 were updated from 19953637; 19061985; 17647292; 22045982 to 17647292; 22045982; 19953637; 19061985
Red cell disorders v0.1 RPS10 Zornitza Stark Added phenotypes 613308 Diamond-Blackfan anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 9; Diamond-Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; 613308 Diamond_Blackfan Anemia 9; Diamond_Blackfan Anemia 9 for gene: RPS10
Red cell disorders v0.1 RPL9 Zornitza Stark Added phenotypes N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia for gene: RPL9
Red cell disorders v0.1 RPL5 Zornitza Stark Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 612561 Diamond-Blackfan anemia 6; Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6 for gene: RPL5
Red cell disorders v0.1 RPL35A Zornitza Stark Added phenotypes Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 5; Diamond-Blackfan anemia 5, 612528; 612528 Diamond-Blackfan anemia 5; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 5; 612528 Diamond_Blackfan Anemia 5; Diamond_Blackfan Anemia 5 for gene: RPL35A
Red cell disorders v0.1 RPL31 Zornitza Stark Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31
Red cell disorders v0.1 RPL27 Zornitza Stark Added phenotypes Diamond-Blackfan anemia; Diamond-Blackfan anemia 16, 617408 for gene: RPL27
Red cell disorders v0.1 RPL26 Zornitza Stark Added phenotypes ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11 for gene: RPL26
Red cell disorders v0.1 RPL15 Zornitza Stark Added phenotypes 615550 ?Diamond-Blackfan anaemia 12; ?Diamond-Blackfan anemia 12, 615550; 615550 ?Diamond-Blackfan anemia 1 for gene: RPL15
Red cell disorders v0.1 RPL11 Zornitza Stark Added phenotypes Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 for gene: RPL11
Red cell disorders v0.1 RHAG Zornitza Stark Added phenotypes Stomatocytosis; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 185000 Overhydrated hereditary stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
Red cell disorders v0.1 PUS1 Zornitza Stark Added phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1
Red cell disorders v0.1 PKLR Zornitza Stark Added phenotypes Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency for gene: PKLR
Red cell disorders v0.1 PIEZO1 Zornitza Stark Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis for gene: PIEZO1
Red cell disorders v0.1 PFKM Zornitza Stark Added phenotypes Glycogen storage disease VII, 232800; 232800 Glycogen storage disease VII for gene: PFKM
Red cell disorders v0.1 NT5C3A Zornitza Stark Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A
Publications for gene NT5C3A were updated from 12714505; 11369620 to 11369620; 12714505
Red cell disorders v0.1 MTRR Zornitza Stark Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR
Publications for gene MTRR were updated from 15714522; 12555939 to 12555939; 15714522
Red cell disorders v0.1 MTR Zornitza Stark Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR
Red cell disorders v0.1 LPIN2 Zornitza Stark Added phenotypes Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome for gene: LPIN2
Publications for gene LPIN2 were updated from 15994876; 17330256 to 17330256; 15994876
Red cell disorders v0.1 KLF1 Zornitza Stark Added phenotypes 613673 Congenital dyserythropoietic anaemia type 4; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV for gene: KLF1
Red cell disorders v0.1 KIF23 Zornitza Stark Added phenotypes Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III for gene: KIF23
Red cell disorders v0.1 KCNN4 Zornitza Stark Added phenotypes Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2 for gene: KCNN4
Red cell disorders v0.1 HSPA9 Zornitza Stark Added phenotypes sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 for gene: HSPA9
Red cell disorders v0.1 HK1 Zornitza Stark Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder for gene: HK1
Publications for gene HK1 were updated from 12393545; 7655856 to 7655856; 12393545
Red cell disorders v0.1 HBG2 Zornitza Stark Added phenotypes Cyanosis, transient neonatal, 613977; 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749 for gene: HBG2
Red cell disorders v0.1 HBG1 Zornitza Stark Added phenotypes 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1, 141749 for gene: HBG1
Red cell disorders v0.1 HBD Zornitza Stark Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta for gene: HBD
Red cell disorders v0.1 HBB Zornitza Stark Added phenotypes Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Erythremias, beta-; 603902 Thalassemia-beta, dominant inclusion-body; 613985 Thalassemia, beta; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; 603902 Dominand inclusion body beta thalassaemia; 603903 Sickle cell disease; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; 141749 Delta-beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; 613985 Beta thalassaemia; Methemoglobinemias, beta- for gene: HBB
Red cell disorders v0.1 HBA2 Zornitza Stark Added phenotypes Hypochromic microcytic anemia; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Erythrocytosis; 60413 Thalassemia, alpha; Heinz body anemia,140700; Thalassemia, alpha-, 604131 for gene: HBA2
Red cell disorders v0.1 HBA1 Zornitza Stark Added phenotypes Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Globin Disorder; 604131 Alpha thalassaemia; Hemoglobin H disease, nondeletional, 613978; Methemoglobinemias, alpha- for gene: HBA1
Red cell disorders v0.1 GSS Zornitza Stark Added phenotypes 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder; 266130 Glutathione synthetase deficiency; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency for gene: GSS
Red cell disorders v0.1 GSR Zornitza Stark Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder; NA Enzyme Disorder for gene: GSR
Red cell disorders v0.1 GPI Zornitza Stark Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI
Red cell disorders v0.1 GLRX5 Zornitza Stark Added phenotypes 616860 Pyridoxine refractory sideroblastic anaemia 3; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5
Publications for gene GLRX5 were updated from 25342667; 20364084; 17485548 to 20364084; 25342667; 17485548
Red cell disorders v0.1 GIF Zornitza Stark Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF
Red cell disorders v0.1 GCLC Zornitza Stark Added phenotypes 230450 Glutamate-cysteine ligase deficiency; Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; Glutamate-cysteine ligase deficiency; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC
Red cell disorders v0.1 GATA1 Zornitza Stark Added phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Myelodysplastic syndrome (MDS), Paediatric; Diamond-Blackfan anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Diamond Blackfan Anaemia; 300367 Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1
Publications for gene GATA1 were updated from 22706301; 24766296; 30228860 to 30228860; 24766296; 22706301
Red cell disorders v0.1 G6PD Zornitza Stark Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 for gene: G6PD
Red cell disorders v0.1 EPB42 Zornitza Stark Added phenotypes Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis for gene: EPB42
Publications for gene EPB42 were updated from 1558976; 7772513; 12176912 to 12176912; 7772513; 1558976
Red cell disorders v0.1 EPB41 Zornitza Stark Added phenotypes Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis for gene: EPB41
Red cell disorders v0.1 DHFR Zornitza Stark Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR
Publications for gene DHFR were updated from 21310276; 21310277 to 21310277; 21310276
Red cell disorders v0.1 CYB5R3 Zornitza Stark Added phenotypes Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II for gene: CYB5R3
Red cell disorders v0.1 CUBN Zornitza Stark Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia; 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN
Red cell disorders v0.1 COX4I2 Zornitza Stark Added phenotypes 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; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
Red cell disorders v0.1 CDAN1 Zornitza Stark Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia; 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
Red cell disorders v0.1 CD59 Zornitza Stark Added phenotypes Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked for gene: CD59
Publications for gene CD59 were updated from 23149847; 1382994; 24382084 to 1382994; 24382084; 23149847
Red cell disorders v0.1 C15orf41 Zornitza Stark Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631; Dyserythropoietic anemia, congenital, type Ib for gene: C15orf41
Publications for gene C15orf41 were updated from 29885034; 29031773; 23716552 to 29031773; 23716552; 29885034
Red cell disorders v0.1 ANK1 Zornitza Stark Added phenotypes Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality for gene: ANK1
Publications for gene ANK1 were updated from 9590147; 7883994; 11167760 to 7883994; 9590147; 11167760
Red cell disorders v0.1 AMN Zornitza Stark Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
Red cell disorders v0.1 ALDOA Zornitza Stark Added phenotypes Enzyme Disorder; 611881 Aldolase A deficiency; Aldolase A deficiency; Glycogen storage disease; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency for gene: ALDOA
Publications for gene ALDOA were updated from 7331996; 8598869 to 8598869; 7331996
Red cell disorders v0.1 ALAS2 Zornitza Stark Added phenotypes Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Sideroblastic anaemia 1; 300751 Anemia, sideroblastic, 1 for gene: ALAS2
Red cell disorders v0.1 AK1 Zornitza Stark Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1
Red cell disorders v0.1 ADA2 Zornitza Stark Added phenotypes Diamond Blackfan anaemia for gene: ADA2
Red cell disorders v0.1 ABCG8 Zornitza Stark Added phenotypes 210250 sitosterolaemia; sitosterolaemia for gene: ABCG8
Red cell disorders v0.1 ABCG5 Zornitza Stark Added phenotypes 210250 sitosterolaemia; sitosterolaemia for gene: ABCG5
Red cell disorders v0.1 ABCB7 Zornitza Stark Added phenotypes 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia for gene: ABCB7
Publications for gene ABCB7 were updated from 11050011; 11843825; 4045952 to 11843825; 4045952; 11050011
Red cell disorders v0.0 Zornitza Stark Panel deleted
Red cell disorders v0.0 SF3B1 Zornitza Stark gene: SF3B1 was added
gene: SF3B1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: SF3B1 was set to Unknown
Publications for gene: SF3B1 were set to 21995386; 28188970
Phenotypes for gene: SF3B1 were set to 605590 Refractory anaemia with ring sideroblasts
Red cell disorders v0.0 HBE1 Zornitza Stark gene: HBE1 was added
gene: HBE1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: HBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBE1 were set to 17712794
Phenotypes for gene: HBE1 were set to Epsilon-gamma-delta-beta thalassaemia
Red cell disorders v0.0 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX1 were set to 1131421
Phenotypes for gene: GPX1 were set to 614164 Hemolytic anemia due to glutathione peroxidase deficiency
Red cell disorders v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 12815595
Phenotypes for gene: FTCD were set to 229100 Glutamate formiminotransferase deficiency
Red cell disorders v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,Yorkshire and North East GLH
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 CYB5A Zornitza Stark gene: CYB5A was added
gene: CYB5A was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5A were set to 20080843; 8168836
Phenotypes for gene: CYB5A were set to 250790 Methemoglobinemia and ambiguous genitalia
Red cell disorders v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 19444090; 11449489; 17579672
Phenotypes for gene: ATRX were set to 301040 Alpha-thalassemia/mental retardation syndrome
Red cell disorders v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSR2 were set to 24942156; 20301769
Phenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Red cell disorders v0.0 STEAP3 Zornitza Stark gene: STEAP3 was added
gene: STEAP3 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: STEAP3 was set to Unknown
Phenotypes for gene: STEAP3 were set to hypochromic anaemia
Red cell disorders v0.0 RPS28 Zornitza Stark gene: RPS28 was added
gene: RPS28 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS28 were set to 24942156; 20301769
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
Red cell disorders v0.0 RPL18 Zornitza Stark gene: RPL18 was added
gene: RPL18 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL18 were set to 28280134
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia
Red cell disorders v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 6412025; 16740138
Phenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency
Red cell disorders v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to 613987 Dyskeratosis congenita, autosomal recessive 2
Red cell disorders v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: NDUFB11 was set to Unknown
Phenotypes for gene: NDUFB11 were set to sideroblastic anaemia
Red cell disorders v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Amber,Wessex and West Midlands GLH
Mode of inheritance for gene: LARS2 was set to Unknown
Phenotypes for gene: LARS2 were set to hydrops/sideroblastic anaemia
Red cell disorders v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS2 were set to 23918765; 20598274; 22504945
Phenotypes for gene: YARS2 were set to 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Red cell disorders v0.0 XK Zornitza Stark gene: XK was added
gene: XK was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XK were set to 11761473; 17683354
Phenotypes for gene: XK were set to 300842 McLeod syndrome
Red cell disorders v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 9042911
Phenotypes for gene: UMPS were set to 258900 Orotic aciduria with megaloblastic anaemia
Red cell disorders v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to sideroblastic anaemia; 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Red cell disorders v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPI1 were set to 9338582; 11698297
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512; 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Enzyme Disorder
Red cell disorders v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 18408718
Phenotypes for gene: TMPRSS6 were set to 206200 Iron refractoryirondeficiencyanemia; Iron-Refractory Iron Deficiency Anemia; Iron refractoryirondeficiencyanemia,206200
Red cell disorders v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TF were set to 11110675; 1862777; 8187613; 3472216; 10660486
Phenotypes for gene: TF were set to 209300 Congenital hypotransferrinemia; Congenital hypotransferrinemia; Atransferrinemia, 209300
Red cell disorders v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 7849710; 10518276
Phenotypes for gene: TCN2 were set to failure to thrive; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia; neutropenic colitis; thrombocytopenia; 275350 Transcobalamin II deficiency; megaloblastic bone marrow; pancytopenia
Red cell disorders v0.0 SPTB Zornitza Stark gene: SPTB was added
gene: SPTB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 8226774; 3276733
Phenotypes for gene: SPTB were set to Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; 616649 Anemia, neonatal hemolytic, fatal and near-fatal; 617948 Elliptocytosis-3; RBC membrane abnormality; Spherocytosis,616649; 616649 Spherocytosis, type 2
Red cell disorders v0.0 SPTA1 Zornitza Stark gene: SPTA1 was added
gene: SPTA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTA1 were set to 1679439; 3940543; 4077050
Phenotypes for gene: SPTA1 were set to 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; RBC membrane abnormality; 270970 Spherocytosis, type 3; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600
Red cell disorders v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC4A1 were set to 1722314
Phenotypes for gene: SLC4A1 were set to 166900 Ovalocytosis, SA type; Ovalocytosis, SA type, 166900; 612653 Spherocytosis, type 4; Haemolytic Anemia; Cryohydrocytosis,185020; RBC membrane abnormality; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis; Spherocytosis, type 4, 612653
Red cell disorders v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC2A1 were set to 22492876; 21791420
Phenotypes for gene: SLC2A1 were set to 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Pyridoxine-refractory sideroblastic anemia; 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Stomatocytosis
Red cell disorders v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2
Red cell disorders v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 10391221; 10978358
Phenotypes for gene: SLC19A2 were set to 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome
Red cell disorders v0.0 SLC11A2 Zornitza Stark gene: SLC11A2 was added
gene: SLC11A2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC11A2 were set to 15459009; 16439678; 16160008
Phenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic, with iron overload 1, 206100; 206100 Anemia, hypochromic microcytic, with iron overload 1
Red cell disorders v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 19561605
Phenotypes for gene: SEC23B were set to 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Congenital Dyserythropoietic Anemia; 224100 Congenital dyserythropoietic anaemia type 2; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Red cell disorders v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome; 260400 Shwachman-Diamond syndrome
Red cell disorders v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS7 were set to 19061985; 27882484; 23718193
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, 612563; 612563 Diamond-Blackfan anemia 8; Diamond-Blackfan Anemia; 612563 Diamond_Blackfan Anemia 8; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 8; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 8
Red cell disorders v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS29 were set to 24829207
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13
Red cell disorders v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS27 were set to 23718193; 25424902
Phenotypes for gene: RPS27 were set to ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17,; Diamond-Blackfan anemia
Red cell disorders v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS26 were set to 23812780; 20116044; 24942156
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10; Diamond_Blackfan Anemia 10; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Inherited Bone Marrow Failure Syndromes; 613309 Diamond-Blackfan anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia
Red cell disorders v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS24 were set to 17186470; 23812780
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 3; Diamond-Blackfan Anemia 3; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 610629 Diamond-blackfan anemia 3; 610629 Diamond_Blackfan Anemia 3
Red cell disorders v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 9988267
Phenotypes for gene: RPS19 were set to 105650 Diamond-Blackfan anemia 1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia; 105650 Diamond_Blackfan Anemia 1; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia
Red cell disorders v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS17 were set to 19953637; 19061985; 17647292; 22045982
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4
Red cell disorders v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS10 were set to 20116044
Phenotypes for gene: RPS10 were set to 613308 Diamond-Blackfan anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 9; Diamond_Blackfan Anemia 9; DIAMOND-BLACKFAN ANEMIA 9; 613308 Diamond_Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 9, 613308; Diamond Blackfan anemia
Red cell disorders v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL9 were set to 29114930
Phenotypes for gene: RPL9 were set to ?Diamond-Blackfan anaemia; N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 19061985
Phenotypes for gene: RPL5 were set to Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia 6; 612561 Diamond-Blackfan anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 6, 612561; Diamond Blackfan anemia
Red cell disorders v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 18535205
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, 612528; Diamond_Blackfan Anemia 5; Diamond-Blackfan Anemia; 612528 Diamond_Blackfan Anemia 5; 612528 Diamond-Blackfan anemia 5; Diamond-Blackfan Anemia 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 5
Red cell disorders v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL31 were set to 25424902; 25042156
Phenotypes for gene: RPL31 were set to N/A ? Diamond-Blackfan Anaemia
Red cell disorders v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL27 were set to 25424902
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Red cell disorders v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,London South GLH,Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11
Red cell disorders v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL15 were set to 23812780
Phenotypes for gene: RPL15 were set to 615550 ?Diamond-Blackfan anaemia 12; 615550 ?Diamond-Blackfan anemia 1; ?Diamond-Blackfan anemia 12, 615550
Red cell disorders v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL11 were set to 19061985; 23812780; 23718193
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, 612562; Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 7; Diamond Blackfan anemia; 612562 Diamond_Blackfan Anemia 7; 612562 Diamond-Blackfan anemia 7
Red cell disorders v0.0 RHAG Zornitza Stark gene: RHAG was added
gene: RHAG was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: RHAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RHAG were set to 18931342
Phenotypes for gene: RHAG were set to 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
Red cell disorders v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 15108122; 15772074
Phenotypes for gene: PUS1 were set to 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
Red cell disorders v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 8664896; 14014643; 7706479
Phenotypes for gene: PKLR were set to Enzyme Disorder; 266200 Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency
Red cell disorders v0.0 PIEZO1 Zornitza Stark gene: PIEZO1 was added
gene: PIEZO1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIEZO1 were set to 22529292; 23695678
Phenotypes for gene: PIEZO1 were set to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 194380 Stomatocytosis; Hereditary xerocytosis; Stomatocytosis; 616843 Lymphatic malformation 6
Red cell disorders v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PFKM were set to 7513946; 2140573
Phenotypes for gene: PFKM were set to 232800 Glycogen storage disease VII; Glycogen storage disease VII, 232800
Red cell disorders v0.0 NT5C3A Zornitza Stark gene: NT5C3A was added
gene: NT5C3A was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 12714505; 11369620
Phenotypes for gene: NT5C3A were set to 266120 Anemia, hemolytic, due to UMPH1 deficiency; Anemia, hemolytic, due to UMPH1 deficiency, 266120
Red cell disorders v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 15714522; 12555939
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type
Red cell disorders v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 9683607; 12068375
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type
Red cell disorders v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 15994876; 17330256
Phenotypes for gene: LPIN2 were set to Majeed syndrome; Congenital dyserythropoietic anemia; Majeed syndrome, 609628; 609628 Majeed syndrome; 609628 Microcytic anemia; CDA; Microcytic anemia
Red cell disorders v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF1 were set to 21055716; 29200155
Phenotypes for gene: KLF1 were set to 613673 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; 613673 Congenital dyserythropoietic anaemia type 4; Dyserythropoietic anemia, congenital, type IV
Red cell disorders v0.0 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Anaemia, dyserythropoietic congenital, type III; Enzyme Disorder; CDA III; Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; Congenital dyserythropoietic anemia (CDA)
Red cell disorders v0.0 KCNN4 Zornitza Stark gene: KCNN4 was added
gene: KCNN4 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: KCNN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN4 were set to 26148990; 26178367
Phenotypes for gene: KCNN4 were set to Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2
Red cell disorders v0.0 HSPA9 Zornitza Stark gene: HSPA9 was added
gene: HSPA9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HSPA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA9 were set to 26491070
Phenotypes for gene: HSPA9 were set to sideroblastic anaemia; 182170 Sideroblastic anaemia 4; Sideroblastic anaemia type 4, 182170; 182170 sideroblastic anaemia type 4
Red cell disorders v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HK1 were set to 12393545; 7655856
Phenotypes for gene: HK1 were set to 235700 Enzyme Disorder; Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency
Red cell disorders v0.0 HBG2 Zornitza Stark gene: HBG2 was added
gene: HBG2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HBG2 were set to 26500940
Phenotypes for gene: HBG2 were set to Cyanosis, transient neonatal, 613977; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder
Red cell disorders v0.0 HBG1 Zornitza Stark gene: HBG1 was added
gene: HBG1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBG1 were set to 26500940
Phenotypes for gene: HBG1 were set to 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1; Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749
Red cell disorders v0.0 HBD Zornitza Stark gene: HBD was added
gene: HBD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBD were set to 27630894; 25490067
Phenotypes for gene: HBD were set to Thalassemiadue to HbLepore; Thalassemia due to Hb Lepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia,delta; Thalassemia, delta
Red cell disorders v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBB were set to 20067565; 23637309
Phenotypes for gene: HBB were set to Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; 141749 Delta-beta thalassaemia; 613985 Thalassemia, beta; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Erythremias, beta-; 603902 Dominand inclusion body beta thalassaemia; 613985 Beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; 603902 Thalassemia-beta, dominant inclusion-body; Globin Disorder; 603903 Sickle cell disease; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; Methemoglobinemias, beta-
Red cell disorders v0.0 HBA2 Zornitza Stark gene: HBA2 was added
gene: HBA2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA2 were set to 2050764
Phenotypes for gene: HBA2 were set to Heinz body anemia,140700; Hemoglobin H disease, nondeletional, 613978; 60413 Thalassemia, alpha; Globin Disorder; Hypochromic microcytic anemia; 604131 Alpha thalassaemia; Erythrocytosis; Thalassemia, alpha-, 604131
Red cell disorders v0.0 HBA1 Zornitza Stark gene: HBA1 was added
gene: HBA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HBA1 were set to 2050764
Phenotypes for gene: HBA1 were set to Heinz body anemias, alpha-, 140700; Thalassemias, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978; Erythremias, alpha-; Methemoglobinemias, alpha-; Globin Disorder; 604131 Alpha thalassaemia; 604131 Thalassemias, alpha
Red cell disorders v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130; Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 231900 Enzyme Disorder; 266130 Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency, 231900
Red cell disorders v0.0 GSR Zornitza Stark gene: GSR was added
gene: GSR was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSR were set to 8533822
Phenotypes for gene: GSR were set to Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; NA Enzyme Disorder
Red cell disorders v0.0 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 411100
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Red cell disorders v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRX5 were set to 25342667; 20364084; 17485548
Phenotypes for gene: GLRX5 were set to 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 616860 Pyridoxine refractory sideroblastic anaemia 3
Red cell disorders v0.0 GIF Zornitza Stark gene: GIF was added
gene: GIF was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 15738392; 14576042
Phenotypes for gene: GIF were set to 261000 Intrinsic factor deficiency
Red cell disorders v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 10515893
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; 230450 Glutamate-cysteine ligase deficiency; Glutamate-cysteine ligase deficiency
Red cell disorders v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 22706301; 24766296; 30228860
Phenotypes for gene: GATA1 were set to 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; 300367 Diamond Blackfan Anaemia; Myelodysplastic syndrome (MDS), Paediatric; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Diamond-Blackfan anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835
Red cell disorders v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: G6PD were set to 18177777
Phenotypes for gene: G6PD were set to Hemolytic anemia due to G6PD deficiency, 300908; 300908 Hemolytic anemia due to G6PD deficiency; Enzyme Disorder; 300908 Hemolytic anemia, G6PD deficient (favism)
Red cell disorders v0.0 EPB42 Zornitza Stark gene: EPB42 was added
gene: EPB42 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB42 were set to 1558976; 7772513; 12176912
Phenotypes for gene: EPB42 were set to Elliptocytosis; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690; Spherocytosis, Recessive; EPB42-related hereditary spherocytosis; RBC membrane abnormality; 612690 Hereditary spherocytosis type 5; Minkowski-Chauffard disease; 612690 Spherocytosis, type 5
Red cell disorders v0.0 EPB41 Zornitza Stark gene: EPB41 was added
gene: EPB41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: EPB41 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPB41 were set to 8423235; 1430200; 3134067
Phenotypes for gene: EPB41 were set to Elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis-1,611804; Hereditary elliptocytosis; 611804 Hereditary elliptocytosis; RBC membrane abnormality
Red cell disorders v0.0 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
Red cell disorders v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB5R3 were set to 18318771; 15921385
Phenotypes for gene: CYB5R3 were set to Methaemoglobinaemia type I and II, 250800; 250800 Methemoglobinemia; 250800 Methaemoglobinaemia type I and II; Methaemoglobinaemia
Red cell disorders v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 17285242; 15024727
Phenotypes for gene: CUBN were set to 261100 Megaloblastic anemia-1, Finnish type; Megaloblastic Anemia; Megaloblastic anemia-1, Finnish type, 261100
Red cell disorders v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Red cell disorders v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 16098079; 12434312
Phenotypes for gene: CDAN1 were set to 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Dyserythropoietic anemia, congenital, type Ia
Red cell disorders v0.0 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Rare anaemia_GEL. Sources: NHS GMS,North West GLH,Yorkshire and North East GLH,Expert Review Green
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 23149847; 1382994; 24382084
Phenotypes for gene: CD59 were set to Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked
Red cell disorders v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 29885034; 29031773; 23716552
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, 615631; 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib
Red cell disorders v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ANK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ANK1 were set to 9590147; 7883994; 11167760
Phenotypes for gene: ANK1 were set to 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality; Spherocytosis, type 1; RBC membrane abnormality; Spherocytosis, type 1,182900
Red cell disorders v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 17285242; 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, 261100; 261100 Megaloblastic anemia-1, Norwegian type
Red cell disorders v0.0 ALDOA Zornitza Stark gene: ALDOA was added
gene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 7331996; 8598869
Phenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881
Red cell disorders v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ALAS2 were set to 10029606
Phenotypes for gene: ALAS2 were set to 300751 Sideroblastic anaemia 1; Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Anemia, sideroblastic, 1
Red cell disorders v0.0 AK1 Zornitza Stark gene: AK1 was added
gene: AK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK1 were set to 28211224
Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency, 612631; 612631 Hemolytic anemia due to adenylate kinase deficiency
Red cell disorders v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Rare anaemia_GEL. Sources: NHS GMS,Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Diamond Blackfan anaemia
Red cell disorders v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to sitosterolaemia; 210250 sitosterolaemia
Red cell disorders v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCB7 were set to 11050011; 11843825; 4045952
Phenotypes for gene: ABCB7 were set to 301310 Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310; Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; 301310 Sideroblastic anaemia
Red cell disorders v0.0 Zornitza Stark Added panel Rare anaemia_GEL