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27 May 2026	Rare anaemia v4.6	NDUFB11	Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 27th May 2026.
27 May 2026	Rare anaemia v4.6	NDUFB11	Ida Ertmanska Phenotypes for gene: NDUFB11 were changed from sideroblastic anaemia to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; sideroblastic anemia, MONDO:0015194
27 May 2026	Rare anaemia v4.5	NDUFB11	Ida Ertmanska Publications for gene: NDUFB11 were set to 27488349
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska commented on gene: NDUFB11: Comment on list classification: There are 4 unrelated male probands reported with a recurrent hemizygous p.Phe93del variant in NDUFB11 and sideroblastic anemia. In addition, 2 unrelated male probands have been reported with mild microcytic / normocytic anemia with different NDUFB11 missense variants. The female heterozygous carriers were unaffected. Hence, this gene should be promoted to Green for Rare anaemia, with MOI set to X-LINKED: hemizygous mutation in males, biallelic mutations in females.
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska changed review comment from: PMID: 27488349 Lichtenstein et al., 2016 Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual). PMID: 30423443 Reinson et al., 2019 Report of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.286C>T and c.328C>T) in NDUFB11. P2 had persistent mild leukopenia and microcytic anemia, P1 had transient normocytic anemia at 2 months, which he recovered from after iron administration. This gene is linked to XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 and XLD Linear skin defects with multiple congenital anomalies 3, OMIM:300952 (accessed 27th May 2026).; to: PMID: 27488349 Lichtenstein et al., 2016 Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual). PMID: 30423443 Reinson et al., 2019 Report of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.286T>C, p.(Ser96Pro) and c.328C>T, p.Pro110Ser) in NDUFB11. P2 had persistent mild leukopenia and microcytic anemia, P1 had transient normocytic anemia at 2 months, which he recovered from after iron administration. This gene is linked to XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 and XLD Linear skin defects with multiple congenital anomalies 3, OMIM:300952 (accessed 27th May 2026).
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska edited their review of gene: NDUFB11: Changed phenotypes to: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952, sideroblastic anemia, MONDO:0015194
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska edited their review of gene: NDUFB11: Changed publications to: 27488349, 30423443
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska changed review comment from: PMID: 27488349 Lichtenstein et al., 2016 Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual). This gene is linked to XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 and XLD Linear skin defects with multiple congenital anomalies 3, OMIM:300952 (accessed 27th May 2026).; to: PMID: 27488349 Lichtenstein et al., 2016 Report of 5 males from 4 families with hemizygous NDUFB11 c.276_278del, p.F93del variant and congenital sideroblastic anemia. Method: WES. Heterozygous females were unaffected, X-inactivation skewing. Recurrent variant, confirmed de novo in one proband, and another proband's mother - posed to occur due to polymerase slipping. Variable syndromic features seen in addition to anemia: short stature (2 families), optic atrophy + DD (1 family), myopathy (2 families), lactic acidosis (1 individual); epilepsy, single kidney, pulmonary stenosis, congenital inguinal hernia (1 individual). PMID: 30423443 Reinson et al., 2019 Report of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.286C>T and c.328C>T) in NDUFB11. P2 had persistent mild leukopenia and microcytic anemia, P1 had transient normocytic anemia at 2 months, which he recovered from after iron administration. This gene is linked to XL ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021 and XLD Linear skin defects with multiple congenital anomalies 3, OMIM:300952 (accessed 27th May 2026).
27 May 2026	Rare anaemia v4.4	NDUFB11	Ida Ertmanska Publications for gene: NDUFB11 were set to
27 May 2026	Rare anaemia v4.3	NDUFB11	Ida Ertmanska Mode of inheritance for gene: NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
27 May 2026	Rare anaemia v4.2	NDUFB11	Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFB11.
27 May 2026	Rare anaemia v4.2	NDUFB11	Ida Ertmanska reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are at least 3 unrelated probands reported in literature with biallelic SLC4A1 variants and severe early onset hemolytic anemia with spherocytosis. Heterozygous family members did not show symptoms of hematological or renal disease - compensated hemolysis and spherocytosis were incidental findings. Hence, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form)', autosomal or pseudoautosomal to reflect this.; to: Comment on mode of inheritance: There are at least 3 unrelated probands reported in literature with biallelic SLC4A1 variants and severe early onset hemolytic anemia with spherocytosis. Heterozygous family members did not show symptoms of hematological or renal disease - some had mild hematological incidental findings. Hence, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form)', autosomal or pseudoautosomal to reflect this.
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are at least 3 unrelated probands reported in literature with biallelic SLC4A1 variants and severe early onset hemolytic anemia with spherocytosis. Heterozygous family members did not show symptoms of hematological or renal disease - compensated hemolysis and spherocytosis were incidental findings. Hence, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form)', autosomal or pseudoautosomal to reflect this.; to: Comment on mode of inheritance: There are at least 3 unrelated probands reported in literature with biallelic SLC4A1 variants and severe early onset hemolytic anemia with spherocytosis. Heterozygous family members did not show symptoms of hematological or renal disease - compensated hemolysis and spherocytosis were incidental findings. Hence, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form)', autosomal or pseudoautosomal to reflect this.
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska edited their review of gene: SLC4A1: Changed publications to: 37448902, 36776909, 29483102, 18174378, 16252102
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska changed review comment from: Biallelic anaemia cases: PMID: 37448902 Shaikh, Suratkal, and Bhave, 2023 Report of an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for SLC4A1 c.2573C>A (p.Ala858Asp). The patient’s parents and siblings had no clinical history of hematological or renal disease. PMID: 29483102 Yang et al., 2018 Patient with anemia and distal renal tubular acidosis, homozygous for SLC4A1 c.2173A>C, p.Ser725Arg. 6-day-old male infant presented with tachypnea, intermittent hypoxia, scleral icterus, splenomegaly, and severe anemia, hemoglobin 6.6 g/dL, and marked spherocytosis. Mother and father (first cousins from Pakistan) were het for the variant, also had Band 3 deficiency and a level of hemolysis, though much lower than in the proband. PMID: 18174378 Toye et al., 2008 Proband developed a transfusion-dependent, hemolytic anemia following birth. Immunoblotting showed band 3 was reduced to approximately 35% of wildtype. Homozygous SLC4A1 c.2000C>T, p.Ser667Phe variant detected. Parents are first cousins from Algerina, both het for the variant - showed compensated hemolysis and spherocytosis, which they were unaware of.; to: Biallelic anaemia cases: PMID: 37448902 Shaikh, Suratkal, and Bhave, 2023 Report of an adult patient presenting with generalized weakness, marked anemia, spherocytosis, and no features of thalassemia. The patient was treated for suspicion of autoimmune hemolytic anemia but was recalcitrant to treatment. Genetic analysis revealed the patient to be homozygous for SLC4A1 c.2573C>A (p.Ala858Asp). The patient’s parents and siblings had no clinical history of hematological or renal disease. PMID: 36776909 Yang et al., 2023 - literature review "almost half of the patients with AR dRTA had hematological abnormalities, while it was uncommon in patients with AD dRTA' dRTA = distal renal tubular acidosis "Autosomal recessive inheritance was more often found in Asian patients (P < 0.05)." PMID: 29483102 Yang et al., 2018 Patient with anemia and distal renal tubular acidosis, homozygous for SLC4A1 c.2173A>C, p.Ser725Arg. 6-day-old male infant presented with tachypnea, intermittent hypoxia, scleral icterus, splenomegaly, and severe anemia, hemoglobin 6.6 g/dL, and marked spherocytosis. Mother and father (first cousins from Pakistan) were het for the variant, also had Band 3 deficiency and a level of hemolysis, though much lower than in the proband. PMID: 22126643 Fawaz et al., 2012 Study of 7 children from 5 consanguineous Omani families presenting with hyperchloremic normal anion gap metabolic acidosis, failure to thrive, and mild to moderate compensated hemolytic anemia, homozygous for c.2573C>A; p.Ala858Asp (confirmed het in all parents). Reported striking acanthocytosis in the homozygous state and only a mild acanthocytosis in parents. PMID: 18174378 Toye et al., 2008 Proband developed a transfusion-dependent, hemolytic anemia following birth. Immunoblotting showed band 3 was reduced to approximately 35% of wildtype. Homozygous SLC4A1 c.2000C>T, p.Ser667Phe variant detected. Parents are first cousins from Algerina, both het for the variant - showed compensated hemolysis and spherocytosis, which they were unaware of. PMID: 16252102 Choo et al., 2005 Patient 2, Sarawak boy with profound hemolytic anemia - comp het for SLC4A1 p.Q759H and p.Ala400_Ala408del variants. Admitted to hospital at 3 weeks due to anemia and failure to thrive, required blood transfusions.
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska commented on gene: SLC4A1: Comment on mode of inheritance: There are at least 3 unrelated probands reported in literature with biallelic SLC4A1 variants and severe early onset hemolytic anemia with spherocytosis. Heterozygous family members did not show symptoms of hematological or renal disease - compensated hemolysis and spherocytosis were incidental findings. Hence, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form)', autosomal or pseudoautosomal to reflect this.
20 May 2026	Rare anaemia v4.2	SLC4A1	Ida Ertmanska Publications for gene: SLC4A1 were set to 1722314
20 May 2026	Rare anaemia v4.1	SLC4A1	Ida Ertmanska Tag Q2_26_MOI tag was added to gene: SLC4A1.
20 May 2026	Rare anaemia v4.1	SLC4A1	Ida Ertmanska reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37448902, 29483102, 18174378; Phenotypes: Distal renal tubular acidosis 4 with hemolytic anemia, OMIM:611590, Cryohydrocytosis, OMIM:185020, Spherocytosis, type 4, OMIM:612653; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
06 May 2026	Rare anaemia v4.1		Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2026-05-06
06 May 2026	Rare anaemia v4.0		Achchuthan Shanmugasundram promoted panel to version 4.0
02 Apr 2026	Rare anaemia v3.23	SLC19A2	Arina Puzriakova Phenotypes for gene: SLC19A2 were changed from 249270 Thiamine-responsive megaloblastic anemia syndrome; 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
01 Apr 2026	Rare anaemia v3.22	SLC19A1	Ida Ertmanska changed review comment from: Comment on list classification: There are now 5 individuals from 4 unrelated families (1 distantly related) with biallelic variants in SLC19A1 and folate-dependent disease. 3 individuals had megaloblastic anemia, and 4 presented with immunodeficiency. Slc19a1-null mice die early on due to failure of hematopoietic organs. Based on available evidence, this gene should be promoted to Green on Rare anaemia.; to: Comment on list classification: There are now 5 individuals from 4 unrelated families (1 distantly related) with biallelic variants in SLC19A1 and folate-dependent disease. 3 individuals had megaloblastic anemia, and 4 presented with immunodeficiency. Slc19a1-null mice die early on due to failure of hematopoietic organs. Based on available evidence, this gene should be promoted to Green on Rare anaemia.
01 Apr 2026	Rare anaemia v3.22	SLC19A1	Ida Ertmanska Classified gene: SLC19A1 as Amber List (moderate evidence)
01 Apr 2026	Rare anaemia v3.22	SLC19A1	Ida Ertmanska Added comment: Comment on list classification: There are now 5 individuals from 4 unrelated families (1 distantly related) with biallelic variants in SLC19A1 and folate-dependent disease. 3 individuals had megaloblastic anemia, and 4 presented with immunodeficiency. Slc19a1-null mice die early on due to failure of hematopoietic organs. Based on available evidence, this gene should be promoted to Green on Rare anaemia.
01 Apr 2026	Rare anaemia v3.22	SLC19A1	Ida Ertmanska Gene: slc19a1 has been classified as Amber List (Moderate Evidence).
01 Apr 2026	Rare anaemia v3.21	SLC19A1	Ida Ertmanska Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, OMIM:601775 to ?Megaloblastic anemia, folate-responsive, OMIM:601775; Immunodeficiency 114, folate-responsive, OMIM:620603
01 Apr 2026	Rare anaemia v3.20	SLC19A1	Ida Ertmanska Publications for gene: SLC19A1 were set to 32276275
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: SLC19A1.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska changed review comment from: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia (low Igg, reduced B cells and lymphocyte counts), high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. Functional evidence: PMID: 11266438 Zhao et al., 2001 - SLC19A1-null mice died in utero, and survived until about 12 days if folic acid supplementation was given to the SLC19A1 +/- mother. The knockout mice showed a marked absence of erythropoiesis in bone marrow, spleen, and liver along with lymphoid depletion in the splenic white pulp and thymus. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.; to: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemia was at 15 yrs old with hemoglobin [Hb], 5 g/dL. Responded well to treatment with cyanocobalamin and folate. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia (low Igg, reduced B cells and lymphocyte counts), high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. Functional evidence: PMID: 11266438 Zhao et al., 2001 - SLC19A1-null mice died in utero, and survived until about 12 days if folic acid supplementation was given to the SLC19A1 +/- mother. The knockout mice showed a marked absence of erythropoiesis in bone marrow, spleen, and liver along with lymphoid depletion in the splenic white pulp and thymus. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska changed review comment from: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. Functional evidence: PMID: 11266438 Zhao et al., 2001 - SLC19A1-null mice died in utero, and survived until about 12 days if folic acid supplementation was given to the SLC19A1 +/- mother. The knockout mice showed a marked absence of erythropoiesis in bone marrow, spleen, and liver along with lymphoid depletion in the splenic white pulp and thymus. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.; to: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia (low Igg, reduced B cells and lymphocyte counts), high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. Functional evidence: PMID: 11266438 Zhao et al., 2001 - SLC19A1-null mice died in utero, and survived until about 12 days if folic acid supplementation was given to the SLC19A1 +/- mother. The knockout mice showed a marked absence of erythropoiesis in bone marrow, spleen, and liver along with lymphoid depletion in the splenic white pulp and thymus. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska changed review comment from: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.; to: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. Functional evidence: PMID: 11266438 Zhao et al., 2001 - SLC19A1-null mice died in utero, and survived until about 12 days if folic acid supplementation was given to the SLC19A1 +/- mother. The knockout mice showed a marked absence of erythropoiesis in bone marrow, spleen, and liver along with lymphoid depletion in the splenic white pulp and thymus. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska changed review comment from: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues; brain tomography revealed cerebral calcification. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.; to: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Brain tomography revealed cerebral calcification. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska changed review comment from: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.; to: PMID: 32276275 Svaton et al., 2020 Case of recurrent severe megaloblastic anemia in a male patient with a homozygous SLC19A1 mutation c.634_636delTTC, p.Phe212del. First episode of severe anemai was at 15 yrs old with hemoglobin [Hb], 5 g/dL. PMID: 36517554 Gök et al., 2023 Report of two cousins carrying a homozygous pathogenic variant c.1042 G>A, p.G348R in SLC19A1, with symptoms of immunodeficiency associated with defects of folate transport. Patients benefited from folinic acid supplementation. Case 1 - hospitalised at 15 days with lower respiratory tract infection and mouth sores; cytopenia, high ferritin, low fibrinogen, and high triglycerides were noted. His sibling died at 3.5 months due to pneumonia. Case 2 - cousin, presented with immunological and neurological issues; brain tomography revealed cerebral calcification. PMID: 36745868 Shiraishi et al., 2023 2 patients with primary immunodeficiency caused by a homozygous missense mutation in SLC19A1 NM_194255:c.1042G>A (p.G348R). P1 - 9yo boy with recurrent respiratory infections, chronic diarrhea, oral lesions, atopic dermatitis, recurrent fever and vomiting; brian MRI showed extensive periventricular white matter hyperintensities (lesions) and undeveloped myelinization for his age P2 - 5yo boy, distant relative of P1; he had repeated episodes of oral lesions, fever, respiratory infections, and chronic diarrhea. Epilepsy and delayed development were also diagnosed. Both patients had anemia (megaloblastic), thrombocytopenia, hypogammaglobulinemia, and lymphopenia, as well as sparse gray hair. Folic acid supplementation was beneficial and improved most symptoms. The relationship between SCL19A1 and immunodeficiency 114, folate-responsive has been classified as Limited by the Primary Immune Regulatory Disorders GCEP in September 2025.
01 Apr 2026	Rare anaemia v3.19	SLC19A1	Ida Ertmanska reviewed gene: SLC19A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32276275, 36517554, 36745868; Phenotypes: ?Megaloblastic anemia, folate-responsive, OMIM:601775, Immunodeficiency 114, folate-responsive, OMIM:620603; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Mar 2026	Rare anaemia v3.19	NHLRC2	Ida Ertmanska Tag gene-checked was removed from gene: NHLRC2.
23 Feb 2026	Rare anaemia v3.19	SPTA1	Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotypes checked 23rd Feb 2026.
23 Feb 2026	Rare anaemia v3.19	SPTA1	Ida Ertmanska Phenotypes for gene: SPTA1 were changed from Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; 270970 Spherocytosis, type 3; 130600 Elliptocytosis-2; RBC membrane abnormality; 266140 Pyropoikilocytosis; Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140 to Elliptocytosis-2, OMIM:130600; Pyropoikilocytosis, OMIM:266140; Spherocytosis, type 3, OMIM:270970
22 Jan 2026	Rare anaemia v3.17	PPOX	Sharon Whatley Deleted their review
22 Jan 2026	Rare anaemia v3.17	PPOX	Sharon Whatley Deleted their comment
20 Jan 2026	Rare anaemia v3.17	RPL17	Achchuthan Shanmugasundram commented on gene: RPL17: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. The GMS reviewers noted that it would be appropriate to add this gene with green rating to R92 Rare anaemia in addition to R91 Cytopenia - NOT Fanconi anaemia.
20 Jan 2026	Rare anaemia v3.17	RPL17	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #621262) and this OMIM record was last accessed on 20 January 2026.
20 Jan 2026	Rare anaemia v3.17	RPL17	Achchuthan Shanmugasundram Phenotypes for gene: RPL17 were changed from Diamond-Blackfan anemia, MONDO:0015253 to Diamond-Blackfan anemia 22, OMIM:621262; Diamond-Blackfan anemia 22, MONDO:0979244
20 Jan 2026	Rare anaemia v3.16	RPL17	Achchuthan Shanmugasundram edited their review of gene: RPL17: Changed phenotypes to: Diamond-Blackfan anemia 22, OMIM:621262, Diamond-Blackfan anemia 22, MONDO:0979244
20 Jan 2026	Rare anaemia v3.16	RPL17	Achchuthan Shanmugasundram Deleted their comment
20 Jan 2026	Rare anaemia v3.16	RPL17	Achchuthan Shanmugasundram Entity copied from Cytopenia - NOT Fanconi anaemia v4.30
20 Jan 2026	Rare anaemia v3.16	RPL17	Achchuthan Shanmugasundram gene: RPL17 was added gene: RPL17 was added to Rare anaemia. Sources: Expert Review Green,NHS GMS,Literature Mode of inheritance for gene: RPL17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL17 were set to 39088281 Phenotypes for gene: RPL17 were set to Diamond-Blackfan anemia, MONDO:0015253 Penetrance for gene: RPL17 were set to Incomplete
10 Dec 2025	Rare anaemia v3.15	RPL27	Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: RPL27. Tag Q2_25_ NHS_review was removed from gene: RPL27.
10 Dec 2025	Rare anaemia v3.15	RPL27	Ida Ertmanska reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
10 Dec 2025	Rare anaemia v3.14	RPL27	Ida Ertmanska Source Expert Review Green was added to RPL27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
04 Nov 2025	Rare anaemia v3.13	CPOX	Ida Ertmanska Tag Q3_25_expert_review was removed from gene: CPOX.
04 Nov 2025	Rare anaemia v3.13	CPOX	Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: CPOX.
16 Oct 2025	Rare anaemia v3.13	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12 - transient. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Schmitt et al., 2005). The presentation does not usually include anaemia. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
15 Oct 2025	Rare anaemia v3.13	CPOX	Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: CPOX.
15 Oct 2025	Rare anaemia v3.13	CPOX	Achchuthan Shanmugasundram Classified gene: CPOX as Amber List (moderate evidence)
15 Oct 2025	Rare anaemia v3.13	CPOX	Achchuthan Shanmugasundram Gene: cpox has been classified as Amber List (Moderate Evidence).
15 Oct 2025	Rare anaemia v3.12	CPOX	Achchuthan Shanmugasundram Mode of inheritance for gene: CPOX was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
15 Oct 2025	Rare anaemia v3.11	PPOX	Achchuthan Shanmugasundram Classified gene: PPOX as No list
15 Oct 2025	Rare anaemia v3.11	PPOX	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ida Ertmanska, PPOX gene is not relevant to Rare anaemia panel. Hence, the rating should be grey and 'curated_removed' tag added to reflect this.
15 Oct 2025	Rare anaemia v3.11	PPOX	Achchuthan Shanmugasundram Gene: ppox has been removed from the panel.
15 Oct 2025	Rare anaemia v3.10	PPOX	Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: PPOX.
14 Oct 2025	Rare anaemia v3.10	PPOX	Ida Ertmanska changed review comment from: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name.; to: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name. PPOX variants do not appear to cause anaemia.
14 Oct 2025	Rare anaemia v3.10	PPOX	Ida Ertmanska changed review comment from: The review by Sharon Whatley (International Porphyria Network) was resubmitted with CPOX as the gene name.; to: The review by Sharon Whatley (International Porphyria Network) was resubmitted on the Rare anaemia panel with CPOX as the gene name.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska edited their review of gene: CPOX: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: There at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance and it does not usually present with anaemia. Based on the available evidence, CPOX should be rated Green for Rare anaemia.; to: Comment on list classification: There at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance and it does not usually present with anaemia. Based on the available evidence, CPOX should be rated Green for Rare anaemia, with Mode of Inheritance set to BIALLELIC, autosomal or pseudoautosomal.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12 - transient. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: There at least 2 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.; to: Comment on list classification: There at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance and it does not usually present with anaemia. Based on the available evidence, CPOX should be rated Green for Rare anaemia.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G p.(Asp233Gly) & c.1207_1218del12, p.(Thr403_Gly406del). PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene. patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with photosensitivity of the skin, hemolytic anemia, and jaundice. Became anemic on day 9, but recovered spontaneously by day 12. The pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. Heterozygous for a deletion in exon 7 of the CPOX gene. Patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: There at least 17 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.; to: Comment on list classification: There at least 2 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks (with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). The presentation does not usually include anaemia. 2 cases of Coproporphyria with anaemia have been reported: PMID: 28349448 Hasegawa et al., 2017 Report of a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene. patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks (with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency.; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks (with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency. CPOX is associated with Coproporphyria 121300 (AR and AD) and Harderoporphyria 618892 (AR) in OMIM (accessed 14th Oct 2025).
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Comment on list classification: There at least 17 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.; to: Comment on list classification: There at least 17 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska commented on gene: CPOX: Comment on list classification: There at least 17 unrelated individuals with Coproporphyria harbouring monoallelic variants in CPOX, and at least 5 unrelated families affected by Coproporphyria (AR) / Harderoporphyria (AR), with affected individuals harbouring biallelic variants in CPOX. Importantly, autosomal dominant Coproporphyria has low clinical penetrance. Based on the available evidence, CPOX should be rated Green for Rare anaemia.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska changed review comment from: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency.; to: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks (with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency.
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska edited their review of gene: CPOX: Added comment: Coproporphyria (AD) is characterized by acute attacks of neurologic dysfunction. The attacks can be brought on by drugs, fasting, menstrual cycle, or infectious diseases. Disorder shows incomplete penetrance (PMID:16159891 Shmitt et al., 2005). PMID: 11309681 Lamoril et al., 2001: 17 apparently unrelated patients diagnosed with Coproporphyria, of which 15 had reported heterozygous variants in CPOX. 13 patients have experienced acute attacks with or without skin lesions), 4 patients have had no attacks- diagnosis was established by measurement of fecal porphyrin. Missense variants are the most common. Coproporphyria (AR) / Harderoporphyria (AR) Harderoporphyria arises due to specific CPOX mutations that alter enzyme residues D400-K404; most patients described to date having at least one K404E allele. As reviewed by Sharon Whatley, there are at least eight patients from five unrelated families with biallelic pathogenic CPOX variants, diagnosed with either Coproporphyria or Harderoporphyria (PMIDs: 9454777, 7757079, 21103937, 30828546, 40296768). PMID: 21103937 Hasanoglu 2011 Male infant from a Turkish consanguineous family presented with the Harderoporphyria phenotype: neonatal hyperbilirubinemia, hemolytic anemia, hepatosplenomegaly, and skin lesions when exposed to UV light. Heterozygous for c.980A>G (p.His327Arg) The patient died at 5 months old due to an apparent acute neurologic porphyric attack. Structural studies predicted that p.H327R interacts with residue W399 in the CPOX active site. PMID: 30828546 Moghe et al., 2019 A 78-year-old man with a history of neonatal anaemia and jaundice, and life-long photosensitivity; found to have harderoporphyria: increased porphyrins in urine, plasma, erythrocytes and feces, including large amounts of harderoporphyrin in feces and erythrocytes. CPOX variants: c.698A>G ( p.Asp233Gly) & c.1207_1218del12, p.Thr403_Gly406del. PMID: 40296768 Kelestemur et al., 2025 2 siblings with harderoporphyria, homozygous for c.83_85del, p.S28* variant (WGS). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. Primary adrenal insufficiency.; Changed publications to: 7757079, 9454777, 11309681, 16159891, 21103937, 30828546, 38940544, 40296768
14 Oct 2025	Rare anaemia v3.10	PPOX	Ida Ertmanska commented on gene: PPOX
14 Oct 2025	Rare anaemia v3.10	CPOX	Ida Ertmanska gene: CPOX was added gene: CPOX was added to Rare anaemia. Sources: Other Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CPOX were set to 7757079; 9454777; 21103937; 30828546; 38940544; 40296768 Phenotypes for gene: CPOX were set to Coproporphyria, OMIM:121300; Harderoporphyria, OMIM:618892 Review for gene: CPOX was set to GREEN Added comment: Review added on behalf of Sharon Whatley (International Porphyria Network): Relevant metabolic investigation: Plasma porphyrin fluorescence emission and faecal coproporphyrin isomer (III:I) ratio (for hereditary coproporphyria) and faecal harderoporphyrin (for harderoporphyria) PMID: 38940544 Aarsand reports that porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes. Defects in the CPOX gene cause hereditary coproporphyria. PMID: 16159891 Schmitt reports that there are two very rare, homozygous forms of HCP one of which is characterised by the faecal excretion of harderoporphyrin. Harderoporphyria has predominantly haematological manifestations such as neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 30828546 Moghe, 9454777 Lamoril, 7757079 Lamoril, 40296768 Kelestemur, 21103937 Hasanoglu report eight patients (from five families) with biallelic pathogenic CPOX variants. They presented with neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 16159891 Schmitt reports that during childhood and adulthood, a mild residual anaemia is chronically observed in harderoporphyria patients. Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%). Sources: Other
11 Sep 2025	Rare anaemia v3.10	PPOX	Sharon Whatley gene: PPOX was added gene: PPOX was added to Rare anaemia. Sources: Other Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PPOX were set to 38940544; 30828546; 9454777; 7757079; 40296768; 21103937 Phenotypes for gene: PPOX were set to 121300; 618892 Penetrance for gene: PPOX were set to Incomplete Review for gene: PPOX was set to GREEN Added comment: Relevant metabolic investigation: Plasma porphyrin fluorescence emission and faecal coproporphyrin isomer (III:I) ratio (for hereditary coproporphyria) and faecal harderoporphyrin (for harderoporphyria) PMID: 38940544 Aarsand reports that porphyrias are a group of rare inborn errors of metabolism caused by abnormal functioning of haem biosynthesis enzymes. Defects in the CPOX gene cause hereditary coproporphyria. PMID: 16159891 Schmitt reports that there are two very rare, homozygous forms of HCP one of which is characterised by the faecal excretion of harderoporphyrin. Harderoporphyria has predominantly haematological manifestations such as neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 30828546 Moghe, 9454777 Lamoril, 7757079 Lamoril, 40296768 Kelestemur, 21103937 Hasanoglu report eight patients (from five families) with biallelic pathogenic CPOX variants. They presented with neonatal jaundice, haemolytic anaemia and hepatosplenomegaly. PMID: 16159891 Schmitt reports that during childhood and adulthood, a mild residual anaemia is chronically observed in harderoporphyria patients. Careful consideration should be given to the reporting of a single pathogenic variant as an incidental finding in the CPOX gene, due to its low clinical penetrance (~0.4%). Sources: Other
07 Apr 2025	Rare anaemia v3.10	RPL27	Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: RPL27. Tag Q2_25_ NHS_review tag was added to gene: RPL27.
07 Apr 2025	Rare anaemia v3.10	RPL27	Sarah Leigh commented on gene: RPL27: PMID: 25424902 and 38988374 report the de novo occurrence of a RPL27 variant (NM_000988.5(RPL27):c.-2-1G>A) in two unrelated, not ethnically matching cases of Diamond-Blackfan anemia 16 (OMIM:617408). Together with the supportive functional studies in Zebra fish (PMID: 25424902), there is sufficient for RPL27 to be green on this panel.
07 Apr 2025	Rare anaemia v3.10	RPL27	Sarah Leigh reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: None; Publications: 25424902, 38988374; Phenotypes: ?Diamond-Blackfan anemia 16, OMIM:617408, Diamond-Blackfan anemia 16, MONDO:0044309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Mar 2025	Rare anaemia v3.10	FUT2	Arina Puzriakova Added comment: Comment on publications: PMID: 39350204 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
26 Mar 2025	Rare anaemia v3.10	FUT2	Arina Puzriakova Publications for gene: FUT2 were set to 39350204
26 Mar 2025	Rare anaemia v3.9	FUT2	Arina Puzriakova gene: FUT2 was added gene: FUT2 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT2 were set to 39350204 Phenotypes for gene: FUT2 were set to Developmental and epileptic encephalopathy Added comment: PMID: 39350204 (2024) - homozygous missense variant (NC_000019.10:g.48703291C>T) in the FUT2 gene was identified in an infant with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anemia. Although the mechanism of how the FUT2 gene variant affects vitamin B12 absorption is unclear. Additional evidence is required before conclusively implicating FUT2 in human disease and therefore rating Red for now. Sources: Literature
11 Mar 2024	Rare anaemia v3.8	ALAS2	Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1, 300751; Anemia, sideroblastic, 1 300751; 300751 Sideroblastic anaemia 1; 300751 Anemia, sideroblastic, 1 to Anemia, sideroblastic, 1, OMIM:300751
24 Jan 2024	Rare anaemia v3.7	PKLR	Arina Puzriakova Phenotypes for gene: PKLR were changed from Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200 to Pyruvate kinase deficiency, OMIM:266200
05 Jan 2024	Rare anaemia v3.6	HBG2	Arina Puzriakova Phenotypes for gene: HBG2 were changed from Globin Disorder; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1,141749; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Cyanosis, transient neonatal, 613977 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Cyanosis, transient neonatal, OMIM:613977; Globin Disorder
05 Jan 2024	Rare anaemia v3.5	HBG1	Arina Puzriakova Phenotypes for gene: HBG1 were changed from Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Hereditary persistance of fetal haemoglobin; Globin Disorder
07 Nov 2023	Rare anaemia v3.4	SEC23B	Arina Puzriakova Phenotypes for gene: SEC23B were changed from 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Congenital Dyserythropoietic Anemia; 224100 Congenital dyserythropoietic anaemia type 2; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
22 Mar 2023	Rare anaemia v3.1		Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
22 Mar 2023	Rare anaemia v3.0		Catherine Snow promoted panel to version 3.0
07 Feb 2023	Rare anaemia v2.5	RPS27	Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
07 Feb 2023	Rare anaemia v2.5	RPS27	Achchuthan Shanmugasundram Deleted their review
07 Feb 2023	Rare anaemia v2.5	RPS27	Achchuthan Shanmugasundram Classified gene: RPS27 as Amber List (moderate evidence)
07 Feb 2023	Rare anaemia v2.5	RPS27	Achchuthan Shanmugasundram Gene: rps27 has been classified as Amber List (Moderate Evidence).
07 Feb 2023	Rare anaemia v2.4	RPS27	Achchuthan Shanmugasundram Deleted their comment
07 Feb 2023	Rare anaemia v2.4	RPL27	Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
07 Feb 2023	Rare anaemia v2.4	RPL27	Achchuthan Shanmugasundram Deleted their review
07 Feb 2023	Rare anaemia v2.4	RPL27	Achchuthan Shanmugasundram Classified gene: RPL27 as Amber List (moderate evidence)
07 Feb 2023	Rare anaemia v2.4	RPL27	Achchuthan Shanmugasundram Gene: rpl27 has been classified as Amber List (Moderate Evidence).
07 Feb 2023	Rare anaemia v2.3	RPL27	Achchuthan Shanmugasundram Deleted their comment
02 Feb 2023	Rare anaemia v2.3	RPS27	Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPS27. Tag Q3_22_expert_review was removed from gene: RPS27.
02 Feb 2023	Rare anaemia v2.3	RPL27	Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: RPL27. Tag Q3_22_expert_review was removed from gene: RPL27.
01 Feb 2023	Rare anaemia v2.3	LARS2	Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LARS2.
01 Feb 2023	Rare anaemia v2.3	KLF1	Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: KLF1.
01 Feb 2023	Rare anaemia v2.3	HEATR3	Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: HEATR3. Tag Q3_22_MOI was removed from gene: HEATR3.
01 Feb 2023	Rare anaemia v2.3	ABCB7	Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: ABCB7.
01 Feb 2023	Rare anaemia v2.3	RPS27	Achchuthan Shanmugasundram reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Rare anaemia v2.3	RPL27	Achchuthan Shanmugasundram reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Rare anaemia v2.3	LARS2	Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Rare anaemia v2.3	KLF1	Achchuthan Shanmugasundram commented on gene: KLF1
01 Feb 2023	Rare anaemia v2.3	HEATR3	Achchuthan Shanmugasundram reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
01 Feb 2023	Rare anaemia v2.3	ABCB7	Achchuthan Shanmugasundram commented on gene: ABCB7
01 Feb 2023	Rare anaemia v2.2	LARS2	Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Feb 2023	Rare anaemia v2.2	KLF1	Achchuthan Shanmugasundram Mode of inheritance for gene KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
01 Feb 2023	Rare anaemia v2.2	HEATR3	Achchuthan Shanmugasundram Source Expert Review Green was added to HEATR3. Source NHS GMS was added to HEATR3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Feb 2023	Rare anaemia v2.2	ABCB7	Achchuthan Shanmugasundram Mode of inheritance for gene ABCB7 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)
30 Nov 2022	Rare anaemia v2.1		Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
30 Nov 2022	Rare anaemia v2.0		Eleanor Williams promoted panel to version 2.0
03 Nov 2022	Rare anaemia v1.46	HK1	Arina Puzriakova Phenotypes for gene: HK1 were changed from 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Enzyme disorder
03 Nov 2022	Rare anaemia v1.45	HBA2	Arina Puzriakova Phenotypes for gene: HBA2 were changed from Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; 604131 Alpha thalassaemia; 60413 Thalassemia, alpha; Hemoglobin H disease, nondeletional, 613978 to Erythrocytosis 7, OMIM:617981; Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
03 Nov 2022	Rare anaemia v1.44	HBA1	Arina Puzriakova Phenotypes for gene: HBA1 were changed from 604131 Thalassemias, alpha; Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; 604131 Alpha thalassaemia; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 to Erythrocytosis 7, OMIM:617981; Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
11 Oct 2022	Rare anaemia v1.43	RHAG	Arina Puzriakova Phenotypes for gene: RHAG were changed from Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 268150 Anemia, hemolytic, Rh-null, regulator type; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis to Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR); Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)
05 Oct 2022	Rare anaemia v1.42	RPL27	Eleanor Williams commented on gene: RPL27
05 Oct 2022	Rare anaemia v1.42	RPL27	Eleanor Williams Tag Q3_22_rating tag was added to gene: RPL27. Tag Q3_22_expert_review tag was added to gene: RPL27.
05 Oct 2022	Rare anaemia v1.42	RPS27	Eleanor Williams commented on gene: RPS27
05 Oct 2022	Rare anaemia v1.42	RPS27	Eleanor Williams Tag Q3_21_expert_review was removed from gene: RPS27. Tag Q3_22_rating tag was added to gene: RPS27. Tag Q3_22_expert_review tag was added to gene: RPS27.
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh Tag Q3_22_rating tag was added to gene: HEATR3. Tag Q3_22_MOI tag was added to gene: HEATR3.
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh edited their review of gene: HEATR3: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.; Changed rating: GREEN
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh Deleted their comment
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases.; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh Entity copied from Intellectual disability v3.1685
25 Aug 2022	Rare anaemia v1.42	HEATR3	Sarah Leigh gene: HEATR3 was added gene: HEATR3 was added to Rare anaemia. Sources: Literature,Expert Review Amber Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR3 were set to 35213692 Phenotypes for gene: HEATR3 were set to Anemia; Thrombocytopenia; Growth delay; Short stature; Abnormality of the skeletal system; Abnormality of finger; Abnormality of the thumb; Intellectual disability; Obesity; Abnormality of the face Penetrance for gene: HEATR3 were set to Complete
11 Aug 2022	Rare anaemia v1.41	XK	Sarah Leigh Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
09 May 2022	Rare anaemia v1.40	RPL9	Eleanor Williams Tag gene-checked tag was added to gene: RPL9.
08 May 2022	Rare anaemia v1.40	RPL31	Eleanor Williams Tag gene-checked tag was added to gene: RPL31.
08 May 2022	Rare anaemia v1.40	NHLRC2	Eleanor Williams Tag gene-checked tag was added to gene: NHLRC2.
06 Apr 2022	Rare anaemia v1.40	HBB	Arina Puzriakova Phenotypes for gene: HBB were changed from Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903 to Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Hereditary persistence of fetal hemoglobin, OMIM:141749; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903
06 Apr 2022	Rare anaemia v1.39	HBB	Arina Puzriakova Phenotypes for gene: HBB were changed from 603902 Dominand inclusion body beta thalassaemia; Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; 141749 Delta-beta thalassaemia; 613985 Beta thalassaemia; Methemoglobinemias, beta-; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; 603903 Sickle cell disease; 603902 Thalassemia-beta, dominant inclusion-body; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; 613985 Thalassemia, beta to Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903
04 Mar 2022	Rare anaemia v1.38	NHLRC2	Arina Puzriakova Tag for-review was removed from gene: NHLRC2.
04 Mar 2022	Rare anaemia v1.38	RPL26	Arina Puzriakova Tag for-review was removed from gene: RPL26.
04 Mar 2022	Rare anaemia v1.38	COX4I2	Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that COX4I2 should be red.
04 Mar 2022	Rare anaemia v1.38	COX4I2	Arina Puzriakova Tag for-review was removed from gene: COX4I2.
04 Mar 2022	Rare anaemia v1.38	VPS4A	Arina Puzriakova Tag for-review was removed from gene: VPS4A.
04 Mar 2022	Rare anaemia v1.38	NHLRC2	Arina Puzriakova commented on gene: NHLRC2
04 Mar 2022	Rare anaemia v1.38	RPL26	Arina Puzriakova commented on gene: RPL26
04 Mar 2022	Rare anaemia v1.38	COX4I2	Arina Puzriakova commented on gene: COX4I2
04 Mar 2022	Rare anaemia v1.38	VPS4A	Arina Puzriakova commented on gene: VPS4A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
04 Mar 2022	Rare anaemia v1.37	RPL26	Arina Puzriakova Source Expert Review Red was added to RPL26. Rating Changed from Green List (high evidence) to Red List (low evidence)
04 Mar 2022	Rare anaemia v1.37	COX4I2	Arina Puzriakova Source Expert Review Red was added to COX4I2. Rating Changed from Green List (high evidence) to Red List (low evidence)
04 Mar 2022	Rare anaemia v1.37	VPS4A	Arina Puzriakova Source Expert Review Green was added to VPS4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Mar 2022	Rare anaemia v1.36	KLF1	Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KLF1.
01 Mar 2022	Rare anaemia v1.36	KLF1	Arina Puzriakova Phenotypes for gene: KLF1 were changed from Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; 613673 Congenital dyserythropoietic anaemia type 4 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
01 Mar 2022	Rare anaemia v1.35	KLF1	Arina Puzriakova Publications for gene: KLF1 were set to 21055716; 29200155
01 Mar 2022	Rare anaemia v1.34	KLF1	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic, (biallelic more severe)'. The expanded MOI is based on compound heterozygous cases in PMID:24443441; 25724378; 27282573; 28361594; 28369821. Heterozygous carrier parents may display features of beta thalassemia.
01 Mar 2022	Rare anaemia v1.34	KLF1	Arina Puzriakova Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Jan 2022	Rare anaemia v1.33	ADA2	Arina Puzriakova Phenotypes for gene: ADA2 were changed from Diamond Blackfan anaemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia
10 Jan 2022	Rare anaemia v1.32	LPIN2	Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628; Microcytic anemia; Congenital dyserythropoietic anemia; CDA; 609628 Majeed syndrome; Majeed syndrome; 609628 Microcytic anemia to Majeed syndrome, OMIM:609628; Microcytic anemia; Congenital dyserythropoietic anemia
08 Dec 2021	Rare anaemia v1.31	PIEZO1	Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Hereditary xerocytosis
08 Dec 2021	Rare anaemia v1.30	PIEZO1	Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from 194380 Stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Hereditary xerocytosis; Dehydrated hereditary stomatocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Hereditary xerocytosis
13 Oct 2021	Rare anaemia v1.29	HSCB	Arina Puzriakova Tag watchlist tag was added to gene: HSCB.
13 Oct 2021	Rare anaemia v1.29	HSCB	Arina Puzriakova Classified gene: HSCB as Amber List (moderate evidence)
13 Oct 2021	Rare anaemia v1.29	HSCB	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Amber, awaiting further cases - single individual reported to date (PMID:32634119) but with strong functional support, including in vitro and animal studies (zebrafish and mouse)
13 Oct 2021	Rare anaemia v1.29	HSCB	Arina Puzriakova Gene: hscb has been classified as Amber List (Moderate Evidence).
13 Oct 2021	Rare anaemia v1.28	HSCB	Arina Puzriakova Phenotypes for gene: HSCB were changed from Anaemia, sideroblastic, 5 619523 to ?Anemia, sideroblastic, 5, OMIM:619523
11 Oct 2021	Rare anaemia v1.27	HSCB	Zornitza Stark gene: HSCB was added gene: HSCB was added to Rare anaemia. Sources: Literature 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: Literature
01 Oct 2021	Rare anaemia v1.27	RPS27	Arina Puzriakova commented on gene: RPS27
01 Oct 2021	Rare anaemia v1.27	RPS27	Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: RPS27.
01 Oct 2021	Rare anaemia v1.27	RPS27	Arina Puzriakova 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, OMIM:617409
16 Sep 2021	Rare anaemia v1.26	RPS27	Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Sep 2021	Rare anaemia v1.26	GSR	Arina Puzriakova Phenotypes for gene: GSR were changed from NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder to Hemolytic anemia due to glutathione reductase deficiency, OMIM:618660
14 Sep 2021	Rare anaemia v1.25	GSR	Arina Puzriakova Publications for gene: GSR were set to 8533822
14 Sep 2021	Rare anaemia v1.24	GSR	Arina Puzriakova commented on gene: GSR
08 Sep 2021	Rare anaemia v1.24	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
22 Jul 2021	Rare anaemia v1.24	XK	Ivone Leong Phenotypes for gene: XK were changed from 300842 McLeod syndrome to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
19 Jul 2021	Rare anaemia v1.23	ABCB7	Ivone Leong Tag Q3_21_MOI tag was added to gene: ABCB7.
19 Jul 2021	Rare anaemia v1.23	ABCB7	Ivone Leong reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
04 Jun 2021	Rare anaemia v1.23	SLC19A1	Arina Puzriakova Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775 to Megaloblastic anemia, folate-responsive, OMIM:601775
04 Jun 2021	Rare anaemia v1.22	SLC19A1	Arina Puzriakova Classified gene: SLC19A1 as Red List (low evidence)
04 Jun 2021	Rare anaemia v1.22	SLC19A1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red as only a single case reported at this time. Additional cases required to validate pathogenicity of variants in this gene.
04 Jun 2021	Rare anaemia v1.22	SLC19A1	Arina Puzriakova Gene: slc19a1 has been classified as Red List (Low Evidence).
10 May 2021	Rare anaemia v1.21	SLC19A1	Zornitza Stark gene: SLC19A1 was added gene: SLC19A1 was added to Rare anaemia. Sources: Literature 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: Literature
13 Apr 2021	Rare anaemia v1.21	LARS2	Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2.
13 Apr 2021	Rare anaemia v1.21	LARS2	Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2021	Rare anaemia v1.21	LARS2	Arina Puzriakova Publications for gene: LARS2 were set to
13 Apr 2021	Rare anaemia v1.20	LARS2	Arina Puzriakova Phenotypes for gene: LARS2 were changed from hydrops/sideroblastic anaemia to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
13 Apr 2021	Rare anaemia v1.19	LARS2	Arina Puzriakova Mode of inheritance for gene: LARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
02 Mar 2021	Rare anaemia v1.18	C15orf41	Arina Puzriakova Publications for gene: C15orf41 were set to 23716552; 29031773; 29885034
02 Mar 2021	Rare anaemia v1.17	C15orf41	Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital dyserythropoietic anaemia type 1b; 615631 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
02 Mar 2021	Rare anaemia v1.16	CDAN1	Arina Puzriakova Publications for gene: CDAN1 were set to 16098079; 12434312
02 Mar 2021	Rare anaemia v1.15	CDAN1	Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Congenital dyserythropoietic anaemia type 1a to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
09 Feb 2021	Rare anaemia v1.14	VPS4A	Arina Puzriakova Phenotypes for gene: VPS4A were changed from developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness to CIMDAG syndrome
03 Feb 2021	Rare anaemia v1.13	VPS4A	Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
03 Feb 2021	Rare anaemia v1.13	VPS4A	Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including haemolytic anaemia in 7/10 cases. Pathogenicity is supported by functional data. There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
03 Feb 2021	Rare anaemia v1.13	VPS4A	Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
03 Feb 2021	Rare anaemia v1.12	VPS4A	Arina Puzriakova Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484)
03 Feb 2021	Rare anaemia v1.11	VPS4A	Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
03 Feb 2021	Rare anaemia v1.11	VPS4A	Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Feb 2021	Rare anaemia v1.10	VPS4A	Arina Puzriakova reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33186545, 33186543, 33460484; Phenotypes: CIMDAG syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Feb 2021	Rare anaemia v1.10	VPS4A	Ivone Leong Tag for-review tag was added to gene: VPS4A.
03 Feb 2021	Rare anaemia v1.10	VPS4A	Ivone Leong Classified gene: VPS4A as Amber List (moderate evidence)
03 Feb 2021	Rare anaemia v1.10	VPS4A	Ivone Leong Gene: vps4a has been classified as Amber List (Moderate Evidence).
02 Feb 2021	Rare anaemia v1.9	VPS4A	Evan Reid gene: VPS4A was added gene: VPS4A was added to Rare anaemia. Sources: Literature,Research Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484) Phenotypes for gene: VPS4A were set to developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness Penetrance for gene: VPS4A were set to Complete Mode of pathogenicity for gene: VPS4A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: VPS4A was set to GREEN Added comment: Multiple families (now 10) described with a consistent phenotype (termed CIMDAG as an acronym for the major features). This includes congenital anaemia in most cases, in some cases this is of a dyserythropoeitic type. All have de novo heterozygous missense mutations of VPS4A, with a distinct mutational hotspot (R284) in many families. Mechanism is likely dominant negative. Haplo-insufficiency of VPS4A is tolerated and present in general population databases, so loss of function mutations likely do not cause this disease. Sources: Literature, Research
04 Jan 2021	Rare anaemia v1.9	ADH5	Arina Puzriakova Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to Aplastic anaemia; Mental retardation; Skin hyperpigmentation, Short stature; Microcephaly
04 Jan 2021	Rare anaemia v1.8	ADH5	Arina Puzriakova Publications for gene: ADH5 were set to 33147438
04 Jan 2021	Rare anaemia v1.7	ADH5	Arina Puzriakova Classified gene: ADH5 as Amber List (moderate evidence)
04 Jan 2021	Rare anaemia v1.7	ADH5	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient unrelated cases (>3) with relevant phenotype for this panel; however, as inheritance is digenic, this gene has been made Amber rather than Green and tagged 'digenic'.
04 Jan 2021	Rare anaemia v1.7	ADH5	Arina Puzriakova Gene: adh5 has been classified as Amber List (Moderate Evidence).
04 Jan 2021	Rare anaemia v1.6	ADH5	Arina Puzriakova Tag digenic tag was added to gene: ADH5.
04 Jan 2021	Rare anaemia v1.6	ADH5	Arina Puzriakova reviewed gene: ADH5: Rating: ; Mode of pathogenicity: None; Publications: 33147438, 33355142; Phenotypes: Aplastic anaemia, Mental retardation, Skin hyperpigmentation, Short stature, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Dec 2020	Rare anaemia v1.6	NHLRC2	Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber with recommendation of review by the GMS with regards to phenotypic fit for this panel. Sufficient cases to make green if appropriate.; to: Comment on list classification: On recommendation of Genomics England clinical team, changing rating from red to amber with recommendation of review by the GMS with regards to phenotypic fit for this panel. Sufficient cases to make green if appropriate.
23 Dec 2020	Rare anaemia v1.6	NHLRC2	Eleanor Williams Classified gene: NHLRC2 as Amber List (moderate evidence)
23 Dec 2020	Rare anaemia v1.6	NHLRC2	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber with recommendation of review by the GMS with regards to phenotypic fit for this panel. Sufficient cases to make green if appropriate.
23 Dec 2020	Rare anaemia v1.6	NHLRC2	Eleanor Williams Gene: nhlrc2 has been classified as Amber List (Moderate Evidence).
23 Dec 2020	Rare anaemia v1.5	NHLRC2	Eleanor Williams Tag for-review tag was added to gene: NHLRC2.
23 Dec 2020	Rare anaemia v1.5	NHLRC2	Eleanor Williams gene: NHLRC2 was added gene: NHLRC2 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 29423877; 32435055 Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278 Review for gene: NHLRC2 was set to GREEN Added comment: PMID: 29423877 Uusimaa et al 2018 - report 3 patients from 2 unrelated non-consanguineous Finnish families in which the children were born asymptomatic but by 2 months of age they had developed a progressive multi-organ disorder. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. All three patients were found using WES to be compound heterozygous for NM_198514:c.442G>T, p.Asp148Tyr and c.601_602delAG, p.Arg201GlyfsTer6. Segregation data for both families is provided. The family history of the two families, traced back 7–9 generations, showed that they did not have common ancestors. Both variants are rare in both Finnish (Sequencing Initiative Suomi - 0.003 and 0.0001 respectively) and non-Finnish populations (Exac). Patient fibroblasts expressed only mRNA with the c.442G>T missense variant, and at low levels. Development of Nhlrc2 null mice stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos showed that nhlrc2 has a role in cellular integrity of the central nervous system during development. PMID: 32435055 - Brodsky et al 2020 - report a 2 year old Ukranian patient with FINCA syndrome who was found by WES to have compound heterozygous variants in NHLRC2 (c.442T>G, p.D148Y and c.428C>A, p.H143P). The c.428C>A variant is not found in the gnomAD database. Each parent was a carrier for one of the variants. Sources: Literature
09 Dec 2020	Rare anaemia v1.4	ADH5	Zornitza Stark gene: ADH5 was added gene: ADH5 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADH5 were set to 33147438 Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature Review for gene: ADH5 was set to GREEN Added comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features. Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory. Extensive experimental data. Sources: Literature
30 Jul 2020	Rare anaemia v1.4	CDAN1	Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Jun 2020	Rare anaemia v1.4	RPL26	Ivone Leong Tag for-review tag was added to gene: RPL26.
17 Jun 2020	Rare anaemia v1.4	COX4I2	Ivone Leong Tag for-review tag was added to gene: COX4I2.
07 May 2020	Rare anaemia v1.4	C15orf41	Catherine Snow commented on gene: C15orf41
07 May 2020	Rare anaemia v1.4	C15orf41	Catherine Snow Tag new-gene-name tag was added to gene: C15orf41.
03 Mar 2020	Rare anaemia v1.3		Catherine Snow Panel version has been signed off
03 Mar 2020	Rare anaemia v1.2		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
02 Mar 2020	Rare anaemia v1.1	RPL26	Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Feb 2020	Rare anaemia v1.1	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
22 Jan 2020	Rare anaemia v1.0	KIF23	Louise Daugherty commented on gene: KIF23: Substantial support from all four GLHs that this gene should be Green, so will remain Green. However, The gene will be flagged up for discussion at the next iteration (version) of this panel to be used for GMS.
30 Dec 2019	Rare anaemia v1.0	KIF23	Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
23 Sep 2019	Rare anaemia v1.0		Louise Daugherty promoted panel to version 1.0
23 Sep 2019	Rare anaemia v0.78		Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
22 Aug 2019	Rare anaemia v0.77		Louise Daugherty List of related panels changed from to R92
22 Jul 2019	Rare anaemia v0.76	TRNT1	Louise Daugherty Mode of inheritance for gene: TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Jul 2019	Rare anaemia v0.75	RPL31	Louise Daugherty Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
22 Jul 2019	Rare anaemia v0.74	HSPA9	Louise Daugherty Mode of inheritance for gene: HSPA9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Jul 2019	Rare anaemia v0.73	HBD	Louise Daugherty Mode of inheritance for gene: HBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Jul 2019	Rare anaemia v0.72	GSR	Louise Daugherty Mode of inheritance for gene: GSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
22 Jul 2019	Rare anaemia v0.71	CYB5R3	Louise Daugherty Mode of inheritance for gene: CYB5R3 was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Jul 2019	Rare anaemia v0.70	ADA2	Louise Daugherty Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
22 Jul 2019	Rare anaemia v0.69	TMPRSS6	Louise Daugherty Classified gene: TMPRSS6 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.69	TMPRSS6	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.69	TMPRSS6	Louise Daugherty Gene: tmprss6 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.68	SLC11A2	Louise Daugherty Classified gene: SLC11A2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.68	SLC11A2	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.68	SLC11A2	Louise Daugherty Gene: slc11a2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.67	SBDS	Louise Daugherty Classified gene: SBDS as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.67	SBDS	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.67	SBDS	Louise Daugherty Gene: sbds has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.66	RPS17	Louise Daugherty Classified gene: RPS17 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.66	RPS17	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.66	RPS17	Louise Daugherty Gene: rps17 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.65	GSR	Louise Daugherty Classified gene: GSR as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.65	GSR	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.65	GSR	Louise Daugherty Gene: gsr has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.64	TRNT1	Louise Daugherty Classified gene: TRNT1 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.64	TRNT1	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.64	TRNT1	Louise Daugherty Gene: trnt1 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.63	RPL31	Louise Daugherty changed review comment from: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.63	RPL31	Louise Daugherty Classified gene: RPL31 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.63	RPL31	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.63	RPL31	Louise Daugherty Gene: rpl31 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.62	CD59	Louise Daugherty Classified gene: CD59 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.62	CD59	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.62	CD59	Louise Daugherty Gene: cd59 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.61	DKC1	Louise Daugherty Classified gene: DKC1 as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.61	DKC1	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.61	DKC1	Louise Daugherty Gene: dkc1 has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.60	SF3B1	Louise Daugherty Classified gene: SF3B1 as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.60	SF3B1	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.60	SF3B1	Louise Daugherty Gene: sf3b1 has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.59	XK	Louise Daugherty Classified gene: XK as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.59	XK	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green.
22 Jul 2019	Rare anaemia v0.59	XK	Louise Daugherty Gene: xk has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.58	UMPS	Louise Daugherty Classified gene: UMPS as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.58	UMPS	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
22 Jul 2019	Rare anaemia v0.58	UMPS	Louise Daugherty Gene: umps has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.57	GIF	Louise Daugherty changed review comment from: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.
22 Jul 2019	Rare anaemia v0.57	GIF	Louise Daugherty Deleted their comment
22 Jul 2019	Rare anaemia v0.57	GIF	Louise Daugherty Classified gene: GIF as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.57	GIF	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.
22 Jul 2019	Rare anaemia v0.57	GIF	Louise Daugherty Gene: gif has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.56	GIF	Louise Daugherty Classified gene: GIF as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.56	GIF	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.56	GIF	Louise Daugherty Gene: gif has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.55	FTCD	Louise Daugherty Classified gene: FTCD as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.55	FTCD	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.55	FTCD	Louise Daugherty Gene: ftcd has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.54	PGK1	Louise Daugherty Classified gene: PGK1 as Amber List (moderate evidence)
22 Jul 2019	Rare anaemia v0.54	PGK1	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Amber
22 Jul 2019	Rare anaemia v0.54	PGK1	Louise Daugherty Gene: pgk1 has been classified as Amber List (Moderate Evidence).
22 Jul 2019	Rare anaemia v0.53	HBE1	Louise Daugherty Classified gene: HBE1 as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.53	HBE1	Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.53	HBE1	Louise Daugherty Gene: hbe1 has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.52	ATRX	Louise Daugherty Classified gene: ATRX as Red List (low evidence)
22 Jul 2019	Rare anaemia v0.52	ATRX	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
22 Jul 2019	Rare anaemia v0.52	ATRX	Louise Daugherty Gene: atrx has been classified as Red List (Low Evidence).
22 Jul 2019	Rare anaemia v0.51	ADA2	Louise Daugherty Classified gene: ADA2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.51	ADA2	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.51	ADA2	Louise Daugherty Gene: ada2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.50	RPL26	Louise Daugherty Classified gene: RPL26 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.50	RPL26	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.50	RPL26	Louise Daugherty Gene: rpl26 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.49	RPL27	Louise Daugherty Classified gene: RPL27 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.49	RPL27	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.49	RPL27	Louise Daugherty Gene: rpl27 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.48	YARS2	Louise Daugherty Classified gene: YARS2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.48	YARS2	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.48	YARS2	Louise Daugherty Gene: yars2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.47	YARS2	Louise Daugherty commented on gene: YARS2: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.47	TF	Louise Daugherty Classified gene: TF as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.47	TF	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.47	TF	Louise Daugherty Gene: tf has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.46	TF	Louise Daugherty commented on gene: TF: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.46	TCN2	Louise Daugherty Classified gene: TCN2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.46	TCN2	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.46	TCN2	Louise Daugherty Gene: tcn2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.45	TCN2	Louise Daugherty commented on gene: TCN2: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.45	PUS1	Louise Daugherty Classified gene: PUS1 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.45	PUS1	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.45	PUS1	Louise Daugherty Gene: pus1 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.44	PUS1	Louise Daugherty commented on gene: PUS1: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.44	MTRR	Louise Daugherty Classified gene: MTRR as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.44	MTRR	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.44	MTRR	Louise Daugherty Gene: mtrr has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.43	MTRR	Louise Daugherty commented on gene: MTRR: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.43	MTR	Louise Daugherty Classified gene: MTR as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.43	MTR	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.43	MTR	Louise Daugherty Gene: mtr has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.42	MTR	Louise Daugherty commented on gene: MTR: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.42	DHFR	Louise Daugherty Classified gene: DHFR as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.42	DHFR	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.42	DHFR	Louise Daugherty Gene: dhfr has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.41	DHFR	Louise Daugherty commented on gene: DHFR: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.41	CUBN	Louise Daugherty Classified gene: CUBN as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.41	CUBN	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.41	CUBN	Louise Daugherty Gene: cubn has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.40	CUBN	Louise Daugherty commented on gene: CUBN: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.40	COX4I2	Louise Daugherty Classified gene: COX4I2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.40	COX4I2	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.40	COX4I2	Louise Daugherty Gene: cox4i2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.39	COX4I2	Louise Daugherty commented on gene: COX4I2: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.39	AMN	Louise Daugherty Classified gene: AMN as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.39	AMN	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.39	AMN	Louise Daugherty Gene: amn has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.38	AMN	Louise Daugherty commented on gene: AMN: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.38	AK1	Louise Daugherty Classified gene: AK1 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.38	AK1	Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
22 Jul 2019	Rare anaemia v0.38	AK1	Louise Daugherty Gene: ak1 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.37	AK1	Louise Daugherty commented on gene: AK1: Discrepant reviews, to be discussed at July workshop to agree rating.
22 Jul 2019	Rare anaemia v0.37	LPIN2	Louise Daugherty Classified gene: LPIN2 as Green List (high evidence)
22 Jul 2019	Rare anaemia v0.37	LPIN2	Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Green
22 Jul 2019	Rare anaemia v0.37	LPIN2	Louise Daugherty Gene: lpin2 has been classified as Green List (High Evidence).
22 Jul 2019	Rare anaemia v0.36	LPIN2	Louise Daugherty commented on gene: LPIN2: Discrepant reviews, to be discussed at July workshop to agree rating.
04 May 2019	Rare anaemia v0.35	ABCG8	Louise Daugherty Source London South GLH was added to ABCG8.
04 May 2019	Rare anaemia v0.35	ABCG5	Louise Daugherty Source London South GLH was added to ABCG5.
04 May 2019	Rare anaemia v0.34	ABCG8	Louise Daugherty commented on gene: ABCG8: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
04 May 2019	Rare anaemia v0.34	ABCG5	Louise Daugherty commented on gene: ABCG5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
04 May 2019	Rare anaemia v0.34	RPL27	Louise Daugherty commented on gene: RPL27: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
04 May 2019	Rare anaemia v0.34	RPL26	Louise Daugherty commented on gene: RPL26: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
04 May 2019	Rare anaemia v0.34	RPL15	Louise Daugherty commented on gene: RPL15: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
04 May 2019	Rare anaemia v0.34	RPL9	Louise Daugherty commented on gene: RPL9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
04 May 2019	Rare anaemia v0.33	ABCG8	Frances Smith reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 May 2019	Rare anaemia v0.33	ABCG5	Frances Smith reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
04 May 2019	Rare anaemia v0.33	RPL27	Frances Smith edited their review of gene: RPL27: Changed rating: GREEN
04 May 2019	Rare anaemia v0.33	RPL26	Frances Smith edited their review of gene: RPL26: Changed rating: GREEN
04 May 2019	Rare anaemia v0.33	RPL15	Frances Smith edited their review of gene: RPL15: Changed rating: GREEN
04 May 2019	Rare anaemia v0.33	RPL9	Frances Smith edited their review of gene: RPL9: Changed rating: GREEN
04 May 2019	Rare anaemia v0.32	ABCG8	Louise Daugherty Mode of inheritance for gene: ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
04 May 2019	Rare anaemia v0.31	ABCG5	Louise Daugherty Mode of inheritance for gene: ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
04 May 2019	Rare anaemia v0.30	RPL27	Louise Daugherty Deleted their comment
04 May 2019	Rare anaemia v0.30	RPL27	Louise Daugherty Added comment: Comment on phenotypes: Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
04 May 2019	Rare anaemia v0.30	RPL27	Louise Daugherty Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408; 617408 ?Diamond-Blackfan anemia 16 to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
04 May 2019	Rare anaemia v0.29	RPL27	Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.28	YARS2	Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 613561; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TSR2	Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TPI1	Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TMPRSS6	Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TF	Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Atransferrinemia, 209300;Congenital hypotransferrinemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	TCN2	Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SPTB	Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SPTA1	Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600;Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140;Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC4A1	Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Haemolytic Anemia;RBC membrane abnormality;Cryohydrocytosis,185020;Ovalocytosis, SA type, 166900;Spherocytosis, type 4, 612653; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC2A1	Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC25A38	Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory 205950; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome 249270; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SLC11A2	Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1 206100; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SEC23B	Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Anemia, dyserythropoieticcongenital, type II, 224100;ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Shwachman-Diamond syndrome; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS7	Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS29	Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 13, 615909; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS27	Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 17, 617409; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS26	Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS24	Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS19	Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS17	Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 4 612527; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPS10	Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL9	Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL5	Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL35A	Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL15	Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: ?Diamond-Blackfan anemia 12 615550; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RPL11	Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	RHAG	Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Stomatocytosis;Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000;Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PUS1	Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PKLR	Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency, 266200; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PIEZO1	Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	PFKM	Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Glycogen storage disease VII, 232800; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	NT5C3A	Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	MTRR	Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	MTR	Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	LPIN2	Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome, 609628; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV, 613673; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	KCNN4	Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Hereditary Xerocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HSPA9	Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HK1	Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency, 235700; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBG2	Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBG1	Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Globin Disorder;Fetal hemoglobin quantitative trait locus 1, 141749; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBD	Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thalassemia, delta; Thalassemiadue to HbLepore; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBB	Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749;Erythremias, beta-;Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700;Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749;Methemoglobinemias, beta-;Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903;Thalassemia-beta, dominant inclusion-body, 603902;Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBA2	Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythrocytosis;Heinz body anemia,140700;Hemoglobin H disease, nondeletional, 613978;Hypochromic microcytic anemia;Thalassemia, alpha-, 60413; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	HBA1	Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Globin Disorder;Erythremias, alpha-;Heinz body anemias, alpha-, 140700;Hemoglobin H disease, nondeletional, 613978;Methemoglobinemias, alpha-;Thalassemias, alpha-, 604131; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GSS	Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GSR	Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GPI	Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GLRX5	Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GCLC	Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	G6PD	Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	EPB42	Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	EPB41	Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	DHFR	Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CYB5R3	Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CUBN	Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	COX4I2	Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CDAN1	Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Dyserythropoietic anemia, congenital, type Ia 224120; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	CD59	Louise Daugherty commented on gene: CD59: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CD59; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 305000 Dyskeratosis congenita, X-linked; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	C15orf41	Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib 615631; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ANK1	Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Spherocytosis, type 1,182900; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	AMN	Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ALDOA	Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Enzyme Disorder;Glycogen storage disease;Glycogen storage disease XII, 611881;Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ALAS2	Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Anemia, sideroblastic, 1 300751; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	AK1	Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCG8	Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCG5	Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.28	ABCB7	Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310; PMID(s): none submitted
18 Feb 2019	Rare anaemia v0.27	YARS2	Steve Keeney reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TSR2	Steve Keeney reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	TPI1	Steve Keeney reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency,615512, Enzyme Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TMPRSS6	Steve Keeney reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Iron-Refractory Iron Deficiency Anemia, Iron refractoryirondeficiencyanemia,206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TF	Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atransferrinemia, 209300, Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	TCN2	Steve Keeney reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Transcobalamin II deficiency, can have a presentation similar to severe combined immunodeficiency, pancytopenia, neutropenic colitis, Agammaglobulinemia, megaloblastic bone marrow, thrombocytopenia, neutropenia, failure to thrive, hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SPTB	Steve Keeney reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis,616649, Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SPTA1	Steve Keeney reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600, Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140, Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC4A1	Steve Keeney reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemolytic Anemia, RBC membrane abnormality, Cryohydrocytosis,185020, Ovalocytosis, SA type, 166900, Spherocytosis, type 4, 612653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	SLC2A1	Steve Keeney reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Pyridoxine-refractory sideroblastic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	SLC25A38	Steve Keeney reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC19A2	Steve Keeney reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SLC11A2	Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hypochromic microcytic, with iron overload 1, 206100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SEC23B	Steve Keeney reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital dyserythropoietic anemia type II, Congenital Dyserythropoietic Anemia, Anemia, dyserythropoieticcongenital, type II, 224100, ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	SBDS	Steve Keeney reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	RPS7	Steve Keeney reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 8, 612563, Diamond_Blackfan Anemia 8, DIAMOND-BLACKFAN ANEMIA 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS29	Steve Keeney reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 13, 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS27	Steve Keeney reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia, ?Diamond-Blackfan anemia 17, 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS26	Steve Keeney reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 10, 613309, Diamond_Blackfan Anemia 10, Diamond-Blackfan anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS24	Steve Keeney reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-blackfan anemia 3, 610629, Diamond-Blackfan Anemia 3, DIAMOND-BLACKFAN ANEMIA 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS19	Steve Keeney reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPS17	Steve Keeney reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 4, 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPS10	Steve Keeney reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 9, 613308, Diamond-Blackfan Anemia 9, DIAMOND-BLACKFAN ANEMIA 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL9	Steve Keeney reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPL5	Steve Keeney reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 6, 612561, Diamond-Blackfan Anemia 6, DIAMOND-BLACKFAN ANEMIA 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL35A	Steve Keeney reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 5, 612528, Diamond-Blackfan Anemia 5, DIAMOND-BLACKFAN ANEMIA 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RPL15	Steve Keeney reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 12, 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	RPL11	Steve Keeney reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 7, 612562, Diamond-Blackfan Anemia 7, DIAMOND-BLACKFAN ANEMIA 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Feb 2019	Rare anaemia v0.27	RHAG	Steve Keeney reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000, Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PUS1	Steve Keeney reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PKLR	Steve Keeney reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency, 266200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	PIEZO1	Steve Keeney reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Hereditary xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	PFKM	Steve Keeney reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease VII, 232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	NT5C3A	Steve Keeney reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, hemolytic, due to UMPH1 deficiency, 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	MTRR	Steve Keeney reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type, 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	MTR	Steve Keeney reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	LPIN2	Steve Keeney reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome, 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	KLF1	Steve Keeney reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV, 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	KIF23	Steve Keeney reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Congenital dyserythropoietic anemia type III, CDA III, Congenital dyserythropoietic anemia (CDA); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	KCNN4	Steve Keeney reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	HSPA9	Steve Keeney reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic anaemia type 4, 182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	HK1	Steve Keeney reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency, 235700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	HBG2	Steve Keeney reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1,141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBG1	Steve Keeney reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Fetal hemoglobin quantitative trait locus 1, 141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBD	Steve Keeney reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia, delta, Thalassemiadue to HbLepore; Mode of inheritance: Unknown; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBB	Steve Keeney reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749, Erythremias, beta-, Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700, Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749, Methemoglobinemias, beta-, Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903, Thalassemia-beta, dominant inclusion-body, 603902, Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBA2	Steve Keeney reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythrocytosis, Heinz body anemia,140700, Hemoglobin H disease, nondeletional, 613978, Hypochromic microcytic anemia, Thalassemia, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	HBA1	Steve Keeney reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythremias, alpha-, Heinz body anemias, alpha-, 140700, Hemoglobin H disease, nondeletional, 613978, Methemoglobinemias, alpha-, Thalassemias, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
18 Feb 2019	Rare anaemia v0.27	GSS	Steve Keeney reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 231900, Glutathione synthetase deficiency, 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GSR	Steve Keeney reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
18 Feb 2019	Rare anaemia v0.27	GPI	Steve Keeney reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GLRX5	Steve Keeney reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GCLC	Steve Keeney reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450, Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	GATA1	Steve Keeney reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelodysplastic syndrome (MDS), Paediatric, Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	G6PD	Steve Keeney reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908, Enzyme Disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
18 Feb 2019	Rare anaemia v0.27	EPB42	Steve Keeney reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Spherocytosis, type 5, 612690, Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	EPB41	Steve Keeney reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis, Elliptocytosis-1,611804, Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Feb 2019	Rare anaemia v0.27	DHFR	Steve Keeney reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CYB5R3	Steve Keeney reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methaemoglobinaemia type I and II, 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CUBN	Steve Keeney reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, 261100, Megaloblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	COX4I2	Steve Keeney reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CDAN1	Steve Keeney reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	CD59	Steve Keeney reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: 24382084, 23149847, 1382994; Phenotypes: Dyskeratosis congenita, X-linked, 305000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	C15orf41	Steve Keeney reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib, 615631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ANK1	Steve Keeney reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Spherocytosis, type 1,182900; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	AMN	Steve Keeney reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megaloblastic anemia-1, Norwegian type, 261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ALDOA	Steve Keeney reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Glycogen storage disease, Glycogen storage disease XII, 611881, Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ALAS2	Steve Keeney reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 1, 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.27	AK1	Steve Keeney reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211224; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCG8	Steve Keeney reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCG5	Steve Keeney reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.27	ABCB7	Steve Keeney reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Feb 2019	Rare anaemia v0.26	YARS2	Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
18 Feb 2019	Rare anaemia v0.26	TSR2	Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2
18 Feb 2019	Rare anaemia v0.26	TPI1	Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1
18 Feb 2019	Rare anaemia v0.26	TMPRSS6	Louise Daugherty Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia for gene: TMPRSS6
18 Feb 2019	Rare anaemia v0.26	TF	Louise Daugherty Added phenotypes Atransferrinemia, 209300; Congenital hypotransferrinemia for gene: TF
18 Feb 2019	Rare anaemia v0.26	TCN2	Louise Daugherty Added phenotypes megaloblastic bone marrow; failure to thrive; pancytopenia; neutropenic colitis; thrombocytopenia; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia for gene: TCN2
18 Feb 2019	Rare anaemia v0.26	SPTB	Louise Daugherty Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB
18 Feb 2019	Rare anaemia v0.26	SPTA1	Louise Daugherty Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1
18 Feb 2019	Rare anaemia v0.26	SLC4A1	Louise Daugherty Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1
18 Feb 2019	Rare anaemia v0.26	SLC2A1	Louise Daugherty Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1
18 Feb 2019	Rare anaemia v0.26	SLC25A38	Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
18 Feb 2019	Rare anaemia v0.26	SLC19A2	Louise Daugherty Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2
18 Feb 2019	Rare anaemia v0.26	SLC11A2	Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
18 Feb 2019	Rare anaemia v0.26	SEC23B	Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100 for gene: SEC23B
18 Feb 2019	Rare anaemia v0.26	SBDS	Louise Daugherty Added phenotypes Shwachman-Diamond syndrome for gene: SBDS
18 Feb 2019	Rare anaemia v0.26	RPS7	Louise Daugherty Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7
18 Feb 2019	Rare anaemia v0.26	RPS29	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 13, 615909 for gene: RPS29
18 Feb 2019	Rare anaemia v0.26	RPS27	Louise Daugherty Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27
18 Feb 2019	Rare anaemia v0.26	RPS26	Louise Daugherty Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26
18 Feb 2019	Rare anaemia v0.26	RPS24	Louise Daugherty Added phenotypes Diamond-blackfan anemia 3, 610629; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia 3; Diamond Blackfan anemia for gene: RPS24
18 Feb 2019	Rare anaemia v0.26	RPS19	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia for gene: RPS19
18 Feb 2019	Rare anaemia v0.26	RPS17	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
18 Feb 2019	Rare anaemia v0.26	RPS10	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10
18 Feb 2019	Rare anaemia v0.26	RPL9	Louise Daugherty Added phenotypes Diamond-Blackfan anemia for gene: RPL9
18 Feb 2019	Rare anaemia v0.26	RPL5	Louise Daugherty Added phenotypes Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5
18 Feb 2019	Rare anaemia v0.26	RPL35A	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 5; Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL35A
18 Feb 2019	Rare anaemia v0.26	RPL15	Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15
18 Feb 2019	Rare anaemia v0.26	RPL11	Louise Daugherty Added phenotypes Diamond-Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11
18 Feb 2019	Rare anaemia v0.26	RHAG	Louise Daugherty Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
18 Feb 2019	Rare anaemia v0.26	PUS1	Louise Daugherty Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1
18 Feb 2019	Rare anaemia v0.26	PKLR	Louise Daugherty Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR
18 Feb 2019	Rare anaemia v0.26	PIEZO1	Louise Daugherty Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
18 Feb 2019	Rare anaemia v0.26	PFKM	Louise Daugherty Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
18 Feb 2019	Rare anaemia v0.26	NT5C3A	Louise Daugherty Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A
18 Feb 2019	Rare anaemia v0.26	MTRR	Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
18 Feb 2019	Rare anaemia v0.26	MTR	Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
18 Feb 2019	Rare anaemia v0.26	LPIN2	Louise Daugherty Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
18 Feb 2019	Rare anaemia v0.26	KLF1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1
18 Feb 2019	Rare anaemia v0.26	KIF23	Louise Daugherty Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23
18 Feb 2019	Rare anaemia v0.26	KCNN4	Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
18 Feb 2019	Rare anaemia v0.26	HSPA9	Louise Daugherty Added phenotypes Sideroblastic anaemia type 4, 182170 for gene: HSPA9
18 Feb 2019	Rare anaemia v0.26	HK1	Louise Daugherty Added phenotypes Hemolytic anemia due to hexokinase deficiency, 235700; Enzyme Disorder for gene: HK1
18 Feb 2019	Rare anaemia v0.26	HBG2	Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2
18 Feb 2019	Rare anaemia v0.26	HBG1	Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder for gene: HBG1
18 Feb 2019	Rare anaemia v0.26	HBD	Louise Daugherty Added phenotypes Thalassemiadue to HbLepore; Thalassemia, delta for gene: HBD
18 Feb 2019	Rare anaemia v0.26	HBB	Louise Daugherty Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749 for gene: HBB
18 Feb 2019	Rare anaemia v0.26	HBA2	Louise Daugherty Added phenotypes Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978 for gene: HBA2
18 Feb 2019	Rare anaemia v0.26	HBA1	Louise Daugherty Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
18 Feb 2019	Rare anaemia v0.26	GSS	Louise Daugherty Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS
18 Feb 2019	Rare anaemia v0.26	GSR	Louise Daugherty Added phenotypes NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency for gene: GSR
18 Feb 2019	Rare anaemia v0.26	GPI	Louise Daugherty Added phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI
18 Feb 2019	Rare anaemia v0.26	GLRX5	Louise Daugherty Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5
18 Feb 2019	Rare anaemia v0.26	GCLC	Louise Daugherty Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC
18 Feb 2019	Rare anaemia v0.26	GATA1	Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1
18 Feb 2019	Rare anaemia v0.26	G6PD	Louise Daugherty Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD
18 Feb 2019	Rare anaemia v0.26	EPB42	Louise Daugherty Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42
18 Feb 2019	Rare anaemia v0.26	EPB41	Louise Daugherty Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41
18 Feb 2019	Rare anaemia v0.26	DHFR	Louise Daugherty Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR
18 Feb 2019	Rare anaemia v0.26	CYB5R3	Louise Daugherty Added phenotypes Methaemoglobinaemia type I and II, 250800 for gene: CYB5R3
18 Feb 2019	Rare anaemia v0.26	CUBN	Louise Daugherty Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia for gene: CUBN
18 Feb 2019	Rare anaemia v0.26	COX4I2	Louise Daugherty Added phenotypes Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 for gene: COX4I2
18 Feb 2019	Rare anaemia v0.26	CDAN1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1
18 Feb 2019	Rare anaemia v0.26	CD59	Louise Daugherty Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: CD59 Publications for gene CD59 were changed from to 1382994; 23149847; 24382084
18 Feb 2019	Rare anaemia v0.26	C15orf41	Louise Daugherty Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41
18 Feb 2019	Rare anaemia v0.26	ANK1	Louise Daugherty Added phenotypes RBC membrane abnormality; Spherocytosis, type 1,182900 for gene: ANK1
18 Feb 2019	Rare anaemia v0.26	AMN	Louise Daugherty Added phenotypes Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN
18 Feb 2019	Rare anaemia v0.26	ALDOA	Louise Daugherty Added phenotypes Aldolase A deficiency; Glycogen storage disease XII, 611881; Glycogen storage disease; Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder for gene: ALDOA
18 Feb 2019	Rare anaemia v0.26	ALAS2	Louise Daugherty Added phenotypes Anemia, sideroblastic, 1, 300751 for gene: ALAS2
18 Feb 2019	Rare anaemia v0.26	AK1	Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Publications for gene AK1 were changed from 10233365; 9432020; 12649162 to 28211224
18 Feb 2019	Rare anaemia v0.26	ABCG8	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG8
18 Feb 2019	Rare anaemia v0.26	ABCG5	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG5
18 Feb 2019	Rare anaemia v0.26	ABCB7	Louise Daugherty Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7
18 Feb 2019	Rare anaemia v0.25	NHP2	Louise Daugherty Mode of inheritance for gene: NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
18 Feb 2019	Rare anaemia v0.24	NHP2	Louise Daugherty Classified gene: NHP2 as Amber List (moderate evidence)
18 Feb 2019	Rare anaemia v0.24	NHP2	Louise Daugherty Gene: nhp2 has been classified as Amber List (Moderate Evidence).
18 Feb 2019	Rare anaemia v0.22	YARS2	Louise Daugherty Source North West GLH was added to YARS2.
18 Feb 2019	Rare anaemia v0.22	TSR2	Louise Daugherty Source North West GLH was added to TSR2.
18 Feb 2019	Rare anaemia v0.22	TPI1	Louise Daugherty Source North West GLH was added to TPI1.
18 Feb 2019	Rare anaemia v0.22	TMPRSS6	Louise Daugherty Source North West GLH was added to TMPRSS6.
18 Feb 2019	Rare anaemia v0.22	TF	Louise Daugherty Source North West GLH was added to TF.
18 Feb 2019	Rare anaemia v0.22	TCN2	Louise Daugherty Source North West GLH was added to TCN2.
18 Feb 2019	Rare anaemia v0.22	SPTB	Louise Daugherty Source North West GLH was added to SPTB.
18 Feb 2019	Rare anaemia v0.22	SPTA1	Louise Daugherty Source North West GLH was added to SPTA1.
18 Feb 2019	Rare anaemia v0.22	SLC4A1	Louise Daugherty Source North West GLH was added to SLC4A1.
18 Feb 2019	Rare anaemia v0.22	SLC2A1	Louise Daugherty Source North West GLH was added to SLC2A1.
18 Feb 2019	Rare anaemia v0.22	SLC25A38	Louise Daugherty Source North West GLH was added to SLC25A38.
18 Feb 2019	Rare anaemia v0.22	SLC19A2	Louise Daugherty Source North West GLH was added to SLC19A2.
18 Feb 2019	Rare anaemia v0.22	SLC11A2	Louise Daugherty Source North West GLH was added to SLC11A2.
18 Feb 2019	Rare anaemia v0.22	SEC23B	Louise Daugherty Source North West GLH was added to SEC23B.
18 Feb 2019	Rare anaemia v0.22	SBDS	Louise Daugherty Source North West GLH was added to SBDS.
18 Feb 2019	Rare anaemia v0.22	RPS7	Louise Daugherty Source North West GLH was added to RPS7.
18 Feb 2019	Rare anaemia v0.22	RPS29	Louise Daugherty Source North West GLH was added to RPS29.
18 Feb 2019	Rare anaemia v0.22	RPS27	Louise Daugherty Source North West GLH was added to RPS27.
18 Feb 2019	Rare anaemia v0.22	RPS26	Louise Daugherty Source North West GLH was added to RPS26.
18 Feb 2019	Rare anaemia v0.22	RPS24	Louise Daugherty Source North West GLH was added to RPS24.
18 Feb 2019	Rare anaemia v0.22	RPS19	Louise Daugherty Source North West GLH was added to RPS19.
18 Feb 2019	Rare anaemia v0.22	RPS17	Louise Daugherty Source North West GLH was added to RPS17.
18 Feb 2019	Rare anaemia v0.22	RPS10	Louise Daugherty Source North West GLH was added to RPS10.
18 Feb 2019	Rare anaemia v0.22	RPL9	Louise Daugherty Source North West GLH was added to RPL9.
18 Feb 2019	Rare anaemia v0.22	RPL5	Louise Daugherty Source North West GLH was added to RPL5.
18 Feb 2019	Rare anaemia v0.22	RPL35A	Louise Daugherty Source North West GLH was added to RPL35A.
18 Feb 2019	Rare anaemia v0.22	RPL15	Louise Daugherty Source North West GLH was added to RPL15.
18 Feb 2019	Rare anaemia v0.22	RPL11	Louise Daugherty Source North West GLH was added to RPL11.
18 Feb 2019	Rare anaemia v0.22	RHAG	Louise Daugherty Source North West GLH was added to RHAG.
18 Feb 2019	Rare anaemia v0.22	PUS1	Louise Daugherty Source North West GLH was added to PUS1.
18 Feb 2019	Rare anaemia v0.22	PKLR	Louise Daugherty Source North West GLH was added to PKLR.
18 Feb 2019	Rare anaemia v0.22	PIEZO1	Louise Daugherty Source North West GLH was added to PIEZO1.
18 Feb 2019	Rare anaemia v0.22	PFKM	Louise Daugherty Source North West GLH was added to PFKM.
18 Feb 2019	Rare anaemia v0.22	NT5C3A	Louise Daugherty Source North West GLH was added to NT5C3A.
18 Feb 2019	Rare anaemia v0.22	MTRR	Louise Daugherty Source North West GLH was added to MTRR.
18 Feb 2019	Rare anaemia v0.22	MTR	Louise Daugherty Source North West GLH was added to MTR.
18 Feb 2019	Rare anaemia v0.22	LPIN2	Louise Daugherty Source North West GLH was added to LPIN2.
18 Feb 2019	Rare anaemia v0.22	KLF1	Louise Daugherty Source North West GLH was added to KLF1.
18 Feb 2019	Rare anaemia v0.22	KIF23	Louise Daugherty Source North West GLH was added to KIF23.
18 Feb 2019	Rare anaemia v0.22	KCNN4	Louise Daugherty Source North West GLH was added to KCNN4.
18 Feb 2019	Rare anaemia v0.22	HSPA9	Louise Daugherty Source North West GLH was added to HSPA9.
18 Feb 2019	Rare anaemia v0.22	HK1	Louise Daugherty Source North West GLH was added to HK1.
18 Feb 2019	Rare anaemia v0.22	HBG2	Louise Daugherty Source North West GLH was added to HBG2.
18 Feb 2019	Rare anaemia v0.22	HBG1	Louise Daugherty Source North West GLH was added to HBG1.
18 Feb 2019	Rare anaemia v0.22	HBD	Louise Daugherty Source North West GLH was added to HBD.
18 Feb 2019	Rare anaemia v0.22	HBB	Louise Daugherty Source North West GLH was added to HBB.
18 Feb 2019	Rare anaemia v0.22	HBA2	Louise Daugherty Source North West GLH was added to HBA2.
18 Feb 2019	Rare anaemia v0.22	HBA1	Louise Daugherty Source North West GLH was added to HBA1.
18 Feb 2019	Rare anaemia v0.22	GSS	Louise Daugherty Source North West GLH was added to GSS.
18 Feb 2019	Rare anaemia v0.22	GSR	Louise Daugherty Source North West GLH was added to GSR.
18 Feb 2019	Rare anaemia v0.22	GPI	Louise Daugherty Source North West GLH was added to GPI.
18 Feb 2019	Rare anaemia v0.22	GLRX5	Louise Daugherty Source North West GLH was added to GLRX5.
18 Feb 2019	Rare anaemia v0.22	GCLC	Louise Daugherty Source North West GLH was added to GCLC.
18 Feb 2019	Rare anaemia v0.22	GATA1	Louise Daugherty Source North West GLH was added to GATA1.
18 Feb 2019	Rare anaemia v0.22	G6PD	Louise Daugherty Source North West GLH was added to G6PD.
18 Feb 2019	Rare anaemia v0.22	EPB42	Louise Daugherty Source North West GLH was added to EPB42.
18 Feb 2019	Rare anaemia v0.22	EPB41	Louise Daugherty Source North West GLH was added to EPB41.
18 Feb 2019	Rare anaemia v0.22	DHFR	Louise Daugherty Source North West GLH was added to DHFR.
18 Feb 2019	Rare anaemia v0.22	CYB5R3	Louise Daugherty Source North West GLH was added to CYB5R3.
18 Feb 2019	Rare anaemia v0.22	CUBN	Louise Daugherty Source North West GLH was added to CUBN.
18 Feb 2019	Rare anaemia v0.22	COX4I2	Louise Daugherty Source North West GLH was added to COX4I2.
18 Feb 2019	Rare anaemia v0.22	CDAN1	Louise Daugherty Source North West GLH was added to CDAN1.
18 Feb 2019	Rare anaemia v0.22	CD59	Louise Daugherty Source North West GLH was added to CD59. Rating Changed from Green List (high evidence) to Green List (high evidence)
18 Feb 2019	Rare anaemia v0.22	C15orf41	Louise Daugherty Source North West GLH was added to C15orf41.
18 Feb 2019	Rare anaemia v0.22	ANK1	Louise Daugherty Source North West GLH was added to ANK1.
18 Feb 2019	Rare anaemia v0.22	AMN	Louise Daugherty Source North West GLH was added to AMN.
18 Feb 2019	Rare anaemia v0.22	ALDOA	Louise Daugherty Source North West GLH was added to ALDOA.
18 Feb 2019	Rare anaemia v0.22	ALAS2	Louise Daugherty Source North West GLH was added to ALAS2.
18 Feb 2019	Rare anaemia v0.22	AK1	Louise Daugherty Source North West GLH was added to AK1.
18 Feb 2019	Rare anaemia v0.22	ABCG8	Louise Daugherty Source North West GLH was added to ABCG8.
18 Feb 2019	Rare anaemia v0.22	ABCG5	Louise Daugherty Source North West GLH was added to ABCG5.
18 Feb 2019	Rare anaemia v0.22	ABCB7	Louise Daugherty Source North West GLH was added to ABCB7.
14 Feb 2019	Rare anaemia v0.21	DKC1	Louise Daugherty Mode of inheritance for gene: DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.20	DKC1	Louise Daugherty Classified gene: DKC1 as Green List (high evidence)
14 Feb 2019	Rare anaemia v0.20	DKC1	Louise Daugherty Gene: dkc1 has been classified as Green List (High Evidence).
14 Feb 2019	Rare anaemia v0.19	CD59	Louise Daugherty Classified gene: CD59 as Green List (high evidence)
14 Feb 2019	Rare anaemia v0.19	CD59	Louise Daugherty Gene: cd59 has been classified as Green List (High Evidence).
14 Feb 2019	Rare anaemia v0.18	CD59	Louise Daugherty Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.17	YARS2	Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TSR2	Louise Daugherty commented on gene: TSR2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TRNT1	Louise Daugherty commented on gene: TRNT1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TRNT1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TPI1	Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TMPRSS6	Louise Daugherty commented on gene: TMPRSS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TMPRSS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TF	Louise Daugherty commented on gene: TF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 209300 Congenital hypotransferrinemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	TCN2	Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 275350 Transcobalamin II deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SPTB	Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SPTA1	Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC4A1	Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612653 Spherocytosis, type 4;166900 Ovalocytosis, SA type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC2A1	Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC25A38	Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SLC11A2	Louise Daugherty commented on gene: SLC11A2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC11A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SEC23B	Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	SBDS	Louise Daugherty commented on gene: SBDS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SBDS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 260400 Shwachman-Diamond syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS7	Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612563 Diamond_Blackfan Anemia 8; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS29	Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615909 Diamond-Blackfan anemia 13; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS28	Louise Daugherty commented on gene: RPS28: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS28; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS27	Louise Daugherty commented on gene: RPS27: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS27; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS26	Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613309 Diamond_Blackfan Anemia 10; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS24	Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610629 Diamond_Blackfan Anemia 3; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS19	Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 105650 Diamond_Blackfan Anemia 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS17	Louise Daugherty commented on gene: RPS17: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS17; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612527 Diamond-Blackfan anemia 4; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPS10	Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613308 Diamond_Blackfan Anemia 9; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL9	Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Diamond-Blackfan anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL5	Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612561 Diamond_Blackfan Anemia 6; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL35A	Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond_Blackfan Anemia 5; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL31	Louise Daugherty commented on gene: RPL31: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL31; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A ? Diamond-Blackfan Anaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL15	Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RPL11	Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612562 Diamond_Blackfan Anemia 7; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	RHAG	Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PUS1	Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PKLR	Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PIEZO1	Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	PFKM	Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 232800 Glycogen storage disease VII; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	NT5C3A	Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	NHP2	Louise Daugherty reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	MTRR	Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	MTR	Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	LPIN2	Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Microcytic anemia;Congenital dyserythropoietic anemia;CDA;Majeed syndrome; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613673 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type IV; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Anaemia, dyserythropoietic congenital, type III; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	KCNN4	Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A Hereditary Xerocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HSPA9	Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HK1	Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235700 Enzyme Disorder;Hemolytic anemia due to hexokinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBG2	Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 141749 Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBG1	Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Globin Disorder;Fetal hemoglobin quantitative trait locus 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBD	Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: Thalassemia,delta; Thalassemia due to Hb Lepore; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBB	Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBA2	Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 60413 Thalassemia, alpha; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	HBA1	Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 604131 Thalassemias, alpha; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GSS	Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231900 Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GSR	Louise Daugherty commented on gene: GSR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: N/A Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GPI	Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GLRX5	Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GCLC	Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	G6PD	Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	EPB42	Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	EPB41	Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 611804 Hereditary elliptocytosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	DHFR	Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	DKC1	Louise Daugherty reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	CYB5R3	Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CUBN	Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	COX4I2	Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CDAN1	Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	CD59	Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
14 Feb 2019	Rare anaemia v0.17	C15orf41	Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15orf41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615631 Congenital Dyserythropoietic Anemia;Dyserythropoietic anemia, congenital, type Ib; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ANK1	Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 182900 RBC membrane abnormality;Spherocytosis, type 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	AMN	Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ALDOA	Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 611881 Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ALAS2	Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300751 Anemia, sideroblastic, 1; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	AK1	Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCG8	Louise Daugherty commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCG5	Louise Daugherty commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 sitosterolaemia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.17	ABCB7	Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia; PMID(s): none submitted
14 Feb 2019	Rare anaemia v0.16	YARS2	Mandy nesbitt reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TSR2	Mandy nesbitt reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.16	TRNT1	Mandy nesbitt reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TPI1	Mandy nesbitt reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TMPRSS6	Mandy nesbitt reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206200 Iron refractoryirondeficiencyanemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TF	Mandy nesbitt reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Congenital hypotransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	TCN2	Mandy nesbitt reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 275350 Transcobalamin II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SPTB	Mandy nesbitt reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SPTA1	Mandy nesbitt reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC4A1	Mandy nesbitt reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612653 Spherocytosis, type 4, 166900 Ovalocytosis, SA type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	SLC2A1	Mandy nesbitt reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	SLC25A38	Mandy nesbitt reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC19A2	Mandy nesbitt reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SLC11A2	Mandy nesbitt reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SEC23B	Mandy nesbitt reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	SBDS	Mandy nesbitt reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 260400 Shwachman-Diamond syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS7	Mandy nesbitt reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612563 Diamond_Blackfan Anemia 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS29	Mandy nesbitt reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615909 Diamond-Blackfan anemia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS28	Mandy nesbitt reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS27	Mandy nesbitt reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617409 ?Diamond-Blackfan anemia 17,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPS26	Mandy nesbitt reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613309 Diamond_Blackfan Anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS24	Mandy nesbitt reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610629 Diamond_Blackfan Anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS19	Mandy nesbitt reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 105650 Diamond_Blackfan Anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS17	Mandy nesbitt reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612527 Diamond-Blackfan anemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPS10	Mandy nesbitt reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613308 Diamond_Blackfan Anemia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPL9	Mandy nesbitt reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A Diamond-Blackfan anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL5	Mandy nesbitt reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612561 Diamond_Blackfan Anemia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RPL35A	Mandy nesbitt reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612528 Diamond_Blackfan Anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Rare anaemia v0.16	RPL31	Mandy nesbitt reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A ? Diamond-Blackfan Anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL15	Mandy nesbitt reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615550 ?Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	RPL11	Mandy nesbitt reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612562 Diamond_Blackfan Anemia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	RHAG	Mandy nesbitt reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PUS1	Mandy nesbitt reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PKLR	Mandy nesbitt reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266200 PYRUVATE KINASE DEFICIENCY, Enzyme Disorder, Pyruvate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	PIEZO1	Mandy nesbitt reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 194380 Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	PFKM	Mandy nesbitt reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232800 Glycogen storage disease VII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	NT5C3A	Mandy nesbitt reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	NHP2	Mandy nesbitt reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613987 Dyskeratosis congenita, autosomal recessive 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	MTRR	Mandy nesbitt reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	MTR	Mandy nesbitt reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	LPIN2	Mandy nesbitt reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609628 Microcytic anemia, Congenital dyserythropoietic anemia, CDA, Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	KLF1	Mandy nesbitt reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613673 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type IV; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	KIF23	Mandy nesbitt reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anaemia, dyserythropoietic congenital, type III; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	KCNN4	Mandy nesbitt reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary Xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	HSPA9	Mandy nesbitt reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182170 sideroblastic anaemia type 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	HK1	Mandy nesbitt reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235700 Enzyme Disorder, Hemolytic anemia due to hexokinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	HBG2	Mandy nesbitt reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Cyanosis, transient neonatal, 613977, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	HBG1	Mandy nesbitt reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 141749 Globin Disorder, Fetal hemoglobin quantitative trait locus 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Feb 2019	Rare anaemia v0.16	HBD	Mandy nesbitt reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thalassemia,delta, Thalassemia due to Hb Lepore; Mode of inheritance: Unknown
14 Feb 2019	Rare anaemia v0.16	HBB	Mandy nesbitt reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613985 Thalassemia, beta, 603902 Thalassemia-beta, dominant inclusion-body; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	HBA2	Mandy nesbitt reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 60413 Thalassemia, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	HBA1	Mandy nesbitt reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604131 Thalassemias, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	GSS	Mandy nesbitt reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231900 Enzyme Disorder, Hemolytic anemia due to glutathione synthetase deficiency, 266130 Glutathione synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GSR	Mandy nesbitt reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
14 Feb 2019	Rare anaemia v0.16	GPI	Mandy nesbitt reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GLRX5	Mandy nesbitt reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GCLC	Mandy nesbitt reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230450 Glutamate-cysteine ligase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	GATA1	Mandy nesbitt reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Diamond Blackfan Anaemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	G6PD	Mandy nesbitt reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
14 Feb 2019	Rare anaemia v0.16	EPB42	Mandy nesbitt reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612690 Hereditary spherocytosis type 5, Minkowski-Chauffard disease, Spherocytosis, Recessive, EPB42-related hereditary spherocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	EPB41	Mandy nesbitt reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611804 Hereditary elliptocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Feb 2019	Rare anaemia v0.16	DHFR	Mandy nesbitt reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	DKC1	Mandy nesbitt reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	CYB5R3	Mandy nesbitt reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250800 Methaemoglobinaemia type I and II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CUBN	Mandy nesbitt reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	COX4I2	Mandy nesbitt reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CDAN1	Mandy nesbitt reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	CD59	Mandy nesbitt reviewed gene: CD59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 305000 Dyskeratosis congenita, X-linked; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	C15orf41	Mandy nesbitt reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615631 Congenital Dyserythropoietic Anemia, Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ANK1	Mandy nesbitt reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182900 RBC membrane abnormality, Spherocytosis, type 1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	AMN	Mandy nesbitt reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ALDOA	Mandy nesbitt reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 611881 Aldolase A deficiency, Glycogen storage disease due to aldolase A deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
14 Feb 2019	Rare anaemia v0.16	ALAS2	Mandy nesbitt reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300751 Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.16	AK1	Mandy nesbitt reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCG8	Mandy nesbitt reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCG5	Mandy nesbitt reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 sitosterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Feb 2019	Rare anaemia v0.16	ABCB7	Mandy nesbitt reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301310 Sideroblastic Anemia and Ataxia, Anemia, sideroblastic, with ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Feb 2019	Rare anaemia v0.15	YARS2	Louise Daugherty Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2
14 Feb 2019	Rare anaemia v0.15	TSR2	Louise Daugherty Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis for gene: TSR2
14 Feb 2019	Rare anaemia v0.15	TRNT1	Louise Daugherty Added phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay for gene: TRNT1
14 Feb 2019	Rare anaemia v0.15	TPI1	Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1
14 Feb 2019	Rare anaemia v0.15	TMPRSS6	Louise Daugherty Added phenotypes 206200 Iron refractoryirondeficiencyanemia for gene: TMPRSS6
14 Feb 2019	Rare anaemia v0.15	TF	Louise Daugherty Added phenotypes 209300 Congenital hypotransferrinemia for gene: TF
14 Feb 2019	Rare anaemia v0.15	TCN2	Louise Daugherty Added phenotypes 275350 Transcobalamin II deficiency for gene: TCN2
14 Feb 2019	Rare anaemia v0.15	SPTB	Louise Daugherty Added phenotypes 616649 Anemia, neonatal hemolytic, fatal and near-fatal for gene: SPTB
14 Feb 2019	Rare anaemia v0.15	SPTA1	Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3 for gene: SPTA1
14 Feb 2019	Rare anaemia v0.15	SLC4A1	Louise Daugherty Added phenotypes 166900 Ovalocytosis, SA type; 612653 Spherocytosis, type 4 for gene: SLC4A1
14 Feb 2019	Rare anaemia v0.15	SLC2A1	Louise Daugherty Added phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia for gene: SLC2A1
14 Feb 2019	Rare anaemia v0.15	SLC25A38	Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38
14 Feb 2019	Rare anaemia v0.15	SLC19A2	Louise Daugherty Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome for gene: SLC19A2
14 Feb 2019	Rare anaemia v0.15	SLC11A2	Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
14 Feb 2019	Rare anaemia v0.15	SEC23B	Louise Daugherty Added phenotypes 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II for gene: SEC23B
14 Feb 2019	Rare anaemia v0.15	SBDS	Louise Daugherty Added phenotypes 260400 Shwachman-Diamond syndrome for gene: SBDS
14 Feb 2019	Rare anaemia v0.15	RPS7	Louise Daugherty Added phenotypes 612563 Diamond_Blackfan Anemia 8 for gene: RPS7
14 Feb 2019	Rare anaemia v0.15	RPS29	Louise Daugherty Added phenotypes 615909 Diamond-Blackfan anemia 13 for gene: RPS29
14 Feb 2019	Rare anaemia v0.15	RPS28	Louise Daugherty Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis for gene: RPS28
14 Feb 2019	Rare anaemia v0.15	RPS27	Louise Daugherty Added phenotypes 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27
14 Feb 2019	Rare anaemia v0.15	RPS26	Louise Daugherty Added phenotypes 613309 Diamond_Blackfan Anemia 10 for gene: RPS26
14 Feb 2019	Rare anaemia v0.15	RPS24	Louise Daugherty Added phenotypes 610629 Diamond_Blackfan Anemia 3 for gene: RPS24
14 Feb 2019	Rare anaemia v0.15	RPS19	Louise Daugherty Added phenotypes 105650 Diamond_Blackfan Anemia 1 for gene: RPS19
14 Feb 2019	Rare anaemia v0.15	RPS17	Louise Daugherty Added phenotypes 612527 Diamond-Blackfan anemia 4 for gene: RPS17
14 Feb 2019	Rare anaemia v0.15	RPS10	Louise Daugherty Added phenotypes 613308 Diamond_Blackfan Anemia 9 for gene: RPS10
14 Feb 2019	Rare anaemia v0.15	RPL9	Louise Daugherty Added phenotypes N/A Diamond-Blackfan anemia for gene: RPL9
14 Feb 2019	Rare anaemia v0.15	RPL5	Louise Daugherty Added phenotypes 612561 Diamond_Blackfan Anemia 6 for gene: RPL5
14 Feb 2019	Rare anaemia v0.15	RPL35A	Louise Daugherty Added phenotypes 612528 Diamond_Blackfan Anemia 5 for gene: RPL35A
14 Feb 2019	Rare anaemia v0.15	RPL31	Louise Daugherty Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31
14 Feb 2019	Rare anaemia v0.15	RPL15	Louise Daugherty Added phenotypes 615550 ?Diamond-Blackfan anemia 1 for gene: RPL15
14 Feb 2019	Rare anaemia v0.15	RPL11	Louise Daugherty Added phenotypes 612562 Diamond_Blackfan Anemia 7 for gene: RPL11
14 Feb 2019	Rare anaemia v0.15	RHAG	Louise Daugherty Added phenotypes 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
14 Feb 2019	Rare anaemia v0.15	PUS1	Louise Daugherty Added phenotypes 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1
14 Feb 2019	Rare anaemia v0.15	PKLR	Louise Daugherty Added phenotypes Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder for gene: PKLR
14 Feb 2019	Rare anaemia v0.15	PIEZO1	Louise Daugherty Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis for gene: PIEZO1
14 Feb 2019	Rare anaemia v0.15	PFKM	Louise Daugherty Added phenotypes 232800 Glycogen storage disease VII for gene: PFKM
14 Feb 2019	Rare anaemia v0.15	NT5C3A	Louise Daugherty Added phenotypes 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A
14 Feb 2019	Rare anaemia v0.15	NHP2	Louise Daugherty Added phenotypes 613987 Dyskeratosis congenita, autosomal recessive 2 for gene: NHP2
14 Feb 2019	Rare anaemia v0.15	MTRR	Louise Daugherty Added phenotypes 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR
14 Feb 2019	Rare anaemia v0.15	MTR	Louise Daugherty Added phenotypes 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR
14 Feb 2019	Rare anaemia v0.15	LPIN2	Louise Daugherty Added phenotypes Majeed syndrome; CDA; 609628 Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2
14 Feb 2019	Rare anaemia v0.15	KLF1	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type IV; 613673 Congenital Dyserythropoietic Anemia for gene: KLF1
14 Feb 2019	Rare anaemia v0.15	KIF23	Louise Daugherty Added phenotypes Anaemia, dyserythropoietic congenital, type III for gene: KIF23
14 Feb 2019	Rare anaemia v0.15	KCNN4	Louise Daugherty Added phenotypes Hereditary Xerocytosis for gene: KCNN4
14 Feb 2019	Rare anaemia v0.15	HSPA9	Louise Daugherty Added phenotypes 182170 sideroblastic anaemia type 4 for gene: HSPA9
14 Feb 2019	Rare anaemia v0.15	HK1	Louise Daugherty Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency for gene: HK1
14 Feb 2019	Rare anaemia v0.15	HBG2	Louise Daugherty Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG2
14 Feb 2019	Rare anaemia v0.15	HBG1	Louise Daugherty Added phenotypes Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG1
14 Feb 2019	Rare anaemia v0.15	HBD	Louise Daugherty Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD
14 Feb 2019	Rare anaemia v0.15	HBB	Louise Daugherty Added phenotypes 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body for gene: HBB
14 Feb 2019	Rare anaemia v0.15	HBA2	Louise Daugherty Added phenotypes 60413 Thalassemia, alpha for gene: HBA2
14 Feb 2019	Rare anaemia v0.15	HBA1	Louise Daugherty Added phenotypes 604131 Thalassemias, alpha for gene: HBA1
14 Feb 2019	Rare anaemia v0.15	GSS	Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; 231900 Enzyme Disorder for gene: GSS
14 Feb 2019	Rare anaemia v0.15	GSR	Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
14 Feb 2019	Rare anaemia v0.15	GPI	Louise Daugherty Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency for gene: GPI
14 Feb 2019	Rare anaemia v0.15	GLRX5	Louise Daugherty Added phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5
14 Feb 2019	Rare anaemia v0.15	GCLC	Louise Daugherty Added phenotypes 230450 Glutamate-cysteine ligase deficiency for gene: GCLC
14 Feb 2019	Rare anaemia v0.15	GATA1	Louise Daugherty Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; 300367 Diamond Blackfan Anaemia; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1
14 Feb 2019	Rare anaemia v0.15	G6PD	Louise Daugherty Added phenotypes 300908 Hemolytic anemia due to G6PD deficiency for gene: G6PD
14 Feb 2019	Rare anaemia v0.15	EPB42	Louise Daugherty Added phenotypes Minkowski-Chauffard disease; Spherocytosis, Recessive; 612690 Hereditary spherocytosis type 5; EPB42-related hereditary spherocytosis for gene: EPB42
14 Feb 2019	Rare anaemia v0.15	EPB41	Louise Daugherty Added phenotypes 611804 Hereditary elliptocytosis for gene: EPB41
14 Feb 2019	Rare anaemia v0.15	DHFR	Louise Daugherty Added phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR
14 Feb 2019	Rare anaemia v0.15	DKC1	Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
14 Feb 2019	Rare anaemia v0.15	CYB5R3	Louise Daugherty Added phenotypes 250800 Methaemoglobinaemia type I and II for gene: CYB5R3
14 Feb 2019	Rare anaemia v0.15	CUBN	Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN
14 Feb 2019	Rare anaemia v0.15	COX4I2	Louise Daugherty Added phenotypes 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
14 Feb 2019	Rare anaemia v0.15	CDAN1	Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1
14 Feb 2019	Rare anaemia v0.15	CD59	Louise Daugherty Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: CD59
14 Feb 2019	Rare anaemia v0.15	C15orf41	Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital Dyserythropoietic Anemia for gene: C15orf41
14 Feb 2019	Rare anaemia v0.15	ANK1	Louise Daugherty Added phenotypes 182900 RBC membrane abnormality; Spherocytosis, type 1 for gene: ANK1
14 Feb 2019	Rare anaemia v0.15	AMN	Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type for gene: AMN
14 Feb 2019	Rare anaemia v0.15	ALDOA	Louise Daugherty Added phenotypes Glycogen storage disease due to aldolase A deficiency; 611881 Aldolase A deficiency for gene: ALDOA
14 Feb 2019	Rare anaemia v0.15	ALAS2	Louise Daugherty Added phenotypes 300751 Anemia, sideroblastic, 1 for gene: ALAS2
14 Feb 2019	Rare anaemia v0.15	AK1	Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1
14 Feb 2019	Rare anaemia v0.15	ABCG8	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG8
14 Feb 2019	Rare anaemia v0.15	ABCG5	Louise Daugherty Added phenotypes 210250 sitosterolaemia for gene: ABCG5
14 Feb 2019	Rare anaemia v0.15	ABCB7	Louise Daugherty Added phenotypes Anemia, sideroblastic, with ataxia; 301310 Sideroblastic Anemia and Ataxia for gene: ABCB7
14 Feb 2019	Rare anaemia v0.14	NHP2	Louise Daugherty Source NHS GMS was added to NHP2.
14 Feb 2019	Rare anaemia v0.14	DKC1	Louise Daugherty Source NHS GMS was added to DKC1.
14 Feb 2019	Rare anaemia v0.14	CD59	Louise Daugherty Source NHS GMS was added to CD59.
14 Feb 2019	Rare anaemia v0.13	YARS2	Louise Daugherty Source Yorkshire and North East GLH was added to YARS2.
14 Feb 2019	Rare anaemia v0.13	TSR2	Louise Daugherty Source Yorkshire and North East GLH was added to TSR2.
14 Feb 2019	Rare anaemia v0.13	TRNT1	Louise Daugherty Source Yorkshire and North East GLH was added to TRNT1.
14 Feb 2019	Rare anaemia v0.13	TPI1	Louise Daugherty Source Yorkshire and North East GLH was added to TPI1.
14 Feb 2019	Rare anaemia v0.13	TMPRSS6	Louise Daugherty Source Yorkshire and North East GLH was added to TMPRSS6.
14 Feb 2019	Rare anaemia v0.13	TF	Louise Daugherty Source Yorkshire and North East GLH was added to TF.
14 Feb 2019	Rare anaemia v0.13	TCN2	Louise Daugherty Source Yorkshire and North East GLH was added to TCN2.
14 Feb 2019	Rare anaemia v0.13	SPTB	Louise Daugherty Source Yorkshire and North East GLH was added to SPTB.
14 Feb 2019	Rare anaemia v0.13	SPTA1	Louise Daugherty Source Yorkshire and North East GLH was added to SPTA1.
14 Feb 2019	Rare anaemia v0.13	SLC4A1	Louise Daugherty Source Yorkshire and North East GLH was added to SLC4A1.
14 Feb 2019	Rare anaemia v0.13	SLC2A1	Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
14 Feb 2019	Rare anaemia v0.13	SLC25A38	Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A38.
14 Feb 2019	Rare anaemia v0.13	SLC19A2	Louise Daugherty Source Yorkshire and North East GLH was added to SLC19A2.
14 Feb 2019	Rare anaemia v0.13	SLC11A2	Louise Daugherty Source Yorkshire and North East GLH was added to SLC11A2.
14 Feb 2019	Rare anaemia v0.13	SEC23B	Louise Daugherty Source Yorkshire and North East GLH was added to SEC23B.
14 Feb 2019	Rare anaemia v0.13	SBDS	Louise Daugherty Source Yorkshire and North East GLH was added to SBDS.
14 Feb 2019	Rare anaemia v0.13	RPS7	Louise Daugherty Source Yorkshire and North East GLH was added to RPS7.
14 Feb 2019	Rare anaemia v0.13	RPS29	Louise Daugherty Source Yorkshire and North East GLH was added to RPS29.
14 Feb 2019	Rare anaemia v0.13	RPS28	Louise Daugherty Source Yorkshire and North East GLH was added to RPS28.
14 Feb 2019	Rare anaemia v0.13	RPS27	Louise Daugherty Source Yorkshire and North East GLH was added to RPS27.
14 Feb 2019	Rare anaemia v0.13	RPS26	Louise Daugherty Source Yorkshire and North East GLH was added to RPS26.
14 Feb 2019	Rare anaemia v0.13	RPS24	Louise Daugherty Source Yorkshire and North East GLH was added to RPS24.
14 Feb 2019	Rare anaemia v0.13	RPS19	Louise Daugherty Source Yorkshire and North East GLH was added to RPS19.
14 Feb 2019	Rare anaemia v0.13	RPS17	Louise Daugherty Source Yorkshire and North East GLH was added to RPS17.
14 Feb 2019	Rare anaemia v0.13	RPS10	Louise Daugherty Source Yorkshire and North East GLH was added to RPS10.
14 Feb 2019	Rare anaemia v0.13	RPL9	Louise Daugherty Source Yorkshire and North East GLH was added to RPL9.
14 Feb 2019	Rare anaemia v0.13	RPL5	Louise Daugherty Source Yorkshire and North East GLH was added to RPL5.
14 Feb 2019	Rare anaemia v0.13	RPL35A	Louise Daugherty Source Yorkshire and North East GLH was added to RPL35A.
14 Feb 2019	Rare anaemia v0.13	RPL31	Louise Daugherty Source Yorkshire and North East GLH was added to RPL31.
14 Feb 2019	Rare anaemia v0.13	RPL15	Louise Daugherty Source Yorkshire and North East GLH was added to RPL15.
14 Feb 2019	Rare anaemia v0.13	RPL11	Louise Daugherty Source Yorkshire and North East GLH was added to RPL11.
14 Feb 2019	Rare anaemia v0.13	RHAG	Louise Daugherty Source Yorkshire and North East GLH was added to RHAG.
14 Feb 2019	Rare anaemia v0.13	PUS1	Louise Daugherty Source Yorkshire and North East GLH was added to PUS1.
14 Feb 2019	Rare anaemia v0.13	PKLR	Louise Daugherty Source Yorkshire and North East GLH was added to PKLR.
14 Feb 2019	Rare anaemia v0.13	PIEZO1	Louise Daugherty Source Yorkshire and North East GLH was added to PIEZO1.
14 Feb 2019	Rare anaemia v0.13	PFKM	Louise Daugherty Source Yorkshire and North East GLH was added to PFKM.
14 Feb 2019	Rare anaemia v0.13	NT5C3A	Louise Daugherty Source Yorkshire and North East GLH was added to NT5C3A.
14 Feb 2019	Rare anaemia v0.13	NHP2	Louise Daugherty gene: NHP2 was added gene: NHP2 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: NHP2 was set to
14 Feb 2019	Rare anaemia v0.13	MTRR	Louise Daugherty Source Yorkshire and North East GLH was added to MTRR.
14 Feb 2019	Rare anaemia v0.13	MTR	Louise Daugherty Source Yorkshire and North East GLH was added to MTR.
14 Feb 2019	Rare anaemia v0.13	LPIN2	Louise Daugherty Source Yorkshire and North East GLH was added to LPIN2.
14 Feb 2019	Rare anaemia v0.13	KLF1	Louise Daugherty Source Yorkshire and North East GLH was added to KLF1.
14 Feb 2019	Rare anaemia v0.13	KIF23	Louise Daugherty Source Yorkshire and North East GLH was added to KIF23.
14 Feb 2019	Rare anaemia v0.13	KCNN4	Louise Daugherty Source Yorkshire and North East GLH was added to KCNN4.
14 Feb 2019	Rare anaemia v0.13	HSPA9	Louise Daugherty Source Yorkshire and North East GLH was added to HSPA9.
14 Feb 2019	Rare anaemia v0.13	HK1	Louise Daugherty Source Yorkshire and North East GLH was added to HK1.
14 Feb 2019	Rare anaemia v0.13	HBG2	Louise Daugherty Source Yorkshire and North East GLH was added to HBG2.
14 Feb 2019	Rare anaemia v0.13	HBG1	Louise Daugherty Source Yorkshire and North East GLH was added to HBG1.
14 Feb 2019	Rare anaemia v0.13	HBD	Louise Daugherty Source Yorkshire and North East GLH was added to HBD.
14 Feb 2019	Rare anaemia v0.13	HBB	Louise Daugherty Source Yorkshire and North East GLH was added to HBB.
14 Feb 2019	Rare anaemia v0.13	HBA2	Louise Daugherty Source Yorkshire and North East GLH was added to HBA2.
14 Feb 2019	Rare anaemia v0.13	HBA1	Louise Daugherty Source Yorkshire and North East GLH was added to HBA1.
14 Feb 2019	Rare anaemia v0.13	GSS	Louise Daugherty Source Yorkshire and North East GLH was added to GSS.
14 Feb 2019	Rare anaemia v0.13	GSR	Louise Daugherty Source Yorkshire and North East GLH was added to GSR.
14 Feb 2019	Rare anaemia v0.13	GPI	Louise Daugherty Source Yorkshire and North East GLH was added to GPI.
14 Feb 2019	Rare anaemia v0.13	GLRX5	Louise Daugherty Source Yorkshire and North East GLH was added to GLRX5.
14 Feb 2019	Rare anaemia v0.13	GCLC	Louise Daugherty Source Yorkshire and North East GLH was added to GCLC.
14 Feb 2019	Rare anaemia v0.13	GATA1	Louise Daugherty Source Yorkshire and North East GLH was added to GATA1.
14 Feb 2019	Rare anaemia v0.13	G6PD	Louise Daugherty Source Yorkshire and North East GLH was added to G6PD.
14 Feb 2019	Rare anaemia v0.13	EPB42	Louise Daugherty Source Yorkshire and North East GLH was added to EPB42.
14 Feb 2019	Rare anaemia v0.13	EPB41	Louise Daugherty Source Yorkshire and North East GLH was added to EPB41.
14 Feb 2019	Rare anaemia v0.13	DHFR	Louise Daugherty Source Yorkshire and North East GLH was added to DHFR.
14 Feb 2019	Rare anaemia v0.13	DKC1	Louise Daugherty gene: DKC1 was added gene: DKC1 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: DKC1 was set to
14 Feb 2019	Rare anaemia v0.13	CYB5R3	Louise Daugherty Source Yorkshire and North East GLH was added to CYB5R3.
14 Feb 2019	Rare anaemia v0.13	CUBN	Louise Daugherty Source Yorkshire and North East GLH was added to CUBN.
14 Feb 2019	Rare anaemia v0.13	COX4I2	Louise Daugherty Source Yorkshire and North East GLH was added to COX4I2.
14 Feb 2019	Rare anaemia v0.13	CDAN1	Louise Daugherty Source Yorkshire and North East GLH was added to CDAN1.
14 Feb 2019	Rare anaemia v0.13	CD59	Louise Daugherty gene: CD59 was added gene: CD59 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CD59 was set to
14 Feb 2019	Rare anaemia v0.13	C15orf41	Louise Daugherty Source Yorkshire and North East GLH was added to C15orf41.
14 Feb 2019	Rare anaemia v0.13	ANK1	Louise Daugherty Source Yorkshire and North East GLH was added to ANK1.
14 Feb 2019	Rare anaemia v0.13	AMN	Louise Daugherty Source Yorkshire and North East GLH was added to AMN.
14 Feb 2019	Rare anaemia v0.13	ALDOA	Louise Daugherty Source Yorkshire and North East GLH was added to ALDOA.
14 Feb 2019	Rare anaemia v0.13	ALAS2	Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
14 Feb 2019	Rare anaemia v0.13	AK1	Louise Daugherty Source Yorkshire and North East GLH was added to AK1.
14 Feb 2019	Rare anaemia v0.13	ABCG8	Louise Daugherty Source Yorkshire and North East GLH was added to ABCG8.
14 Feb 2019	Rare anaemia v0.13	ABCG5	Louise Daugherty Source Yorkshire and North East GLH was added to ABCG5.
14 Feb 2019	Rare anaemia v0.13	ABCB7	Louise Daugherty Source Yorkshire and North East GLH was added to ABCB7.
08 Feb 2019	Rare anaemia v0.12	GIF	Louise Daugherty commented on gene: GIF: New approved HGNC gene symbol for GIF is CBLIF
08 Feb 2019	Rare anaemia v0.12	GIF	Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
08 Feb 2019	Rare anaemia v0.12	UMPS	Louise Daugherty Source Expert Review Green was added to UMPS. Mode of inheritance for gene UMPS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	GIF	Louise Daugherty Source Expert Review Green was added to GIF. Mode of inheritance for gene GIF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	FTCD	Louise Daugherty Source Expert Review Green was added to FTCD. Mode of inheritance for gene FTCD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	SF3B1	Louise Daugherty Source Expert Review Green was added to SF3B1. Mode of inheritance for gene SF3B1 was changed from to Unknown Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	HBE1	Louise Daugherty Source Expert Review Green was added to HBE1. Mode of inheritance for gene HBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	ATRX	Louise Daugherty Source Expert Review Green was added to ATRX. Mode of inheritance for gene ATRX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	PGK1	Louise Daugherty Source Expert Review Green was added to PGK1. Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.12	GPX1	Louise Daugherty Source Expert Review Red was added to GPX1. Mode of inheritance for gene GPX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1
08 Feb 2019	Rare anaemia v0.12	CYB5A	Louise Daugherty Source Expert Review Red was added to CYB5A. Mode of inheritance for gene CYB5A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A
08 Feb 2019	Rare anaemia v0.12	XK	Louise Daugherty Source Expert Review Green was added to XK. Mode of inheritance for gene XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes 300842 McLeod syndrome for gene: XK Rating Changed from Red List (low evidence) to Green List (high evidence)
08 Feb 2019	Rare anaemia v0.11	UMPS	Louise Daugherty reviewed gene: UMPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	TCN2	Louise Daugherty commented on gene: TCN2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TCN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 275350 Transcobalamin II deficiency; PMID(s): 7849710; 10518276
08 Feb 2019	Rare anaemia v0.11	HSPA9	Louise Daugherty commented on gene: HSPA9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 182170 Sideroblastic anaemia 4; PMID(s): 26491070
08 Feb 2019	Rare anaemia v0.11	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358
08 Feb 2019	Rare anaemia v0.11	MTRR	Louise Daugherty commented on gene: MTRR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTRR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; PMID(s): 12555939; 15714522
08 Feb 2019	Rare anaemia v0.11	MTR	Louise Daugherty commented on gene: MTR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MTR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; PMID(s): 9683607; 12068375
08 Feb 2019	Rare anaemia v0.11	GIF	Louise Daugherty reviewed gene: GIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	FTCD	Louise Daugherty reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	DHFR	Louise Daugherty commented on gene: DHFR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DHFR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; PMID(s): 21310276; 21310277
08 Feb 2019	Rare anaemia v0.11	CUBN	Louise Daugherty commented on gene: CUBN: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CUBN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; PMID(s): 15024727; 17285242
08 Feb 2019	Rare anaemia v0.11	AMN	Louise Daugherty commented on gene: AMN: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AMN; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; PMID(s): 12590260; 17285242
08 Feb 2019	Rare anaemia v0.11	YARS2	Louise Daugherty commented on gene: YARS2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: YARS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): 20598274; 23918765; 22504945
08 Feb 2019	Rare anaemia v0.11	SLC25A38	Louise Daugherty commented on gene: SLC25A38: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC25A38; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 205950 Pyridoxine refractory sideroblastic anaemia 2; PMID(s): 19412178
08 Feb 2019	Rare anaemia v0.11	SLC19A2	Louise Daugherty commented on gene: SLC19A2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC19A2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; PMID(s): 10391221; 10978358
08 Feb 2019	Rare anaemia v0.11	SF3B1	Louise Daugherty reviewed gene: SF3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	PUS1	Louise Daugherty commented on gene: PUS1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PUS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; PMID(s): 15108122; 15772074
08 Feb 2019	Rare anaemia v0.11	GLRX5	Louise Daugherty commented on gene: GLRX5: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616860 Pyridoxine refractory sideroblastic anaemia 3; PMID(s): 17485548; 25342667; 20364084
08 Feb 2019	Rare anaemia v0.11	ALAS2	Louise Daugherty commented on gene: ALAS2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALAS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300751 Sideroblastic anaemia 1; PMID(s): 10029606
08 Feb 2019	Rare anaemia v0.11	ABCB7	Louise Daugherty commented on gene: ABCB7: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCB7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301310 Sideroblastic anaemia; PMID(s): 4045952; 11050011; 11843825;
08 Feb 2019	Rare anaemia v0.11	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Diamond-Blackfan anaemia; PMID(s): 22706301; 30228860; 24766296
08 Feb 2019	Rare anaemia v0.11	RPS29	Louise Daugherty commented on gene: RPS29: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS29; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615909 Diamond-Blackfan anemia 13; PMID(s): 24829207
08 Feb 2019	Rare anaemia v0.11	RPS26	Louise Daugherty commented on gene: RPS26: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613309 Diamond-Blackfan anemia 10; PMID(s): 20116044; 23812780; 24942156
08 Feb 2019	Rare anaemia v0.11	RPS24	Louise Daugherty commented on gene: RPS24: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS24; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610629 Diamond-blackfan anemia 3; PMID(s): 17186470; 23812780
08 Feb 2019	Rare anaemia v0.11	RPS19	Louise Daugherty commented on gene: RPS19: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS19; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 105650 Diamond-Blackfan anemia 1; PMID(s): 9988267
08 Feb 2019	Rare anaemia v0.11	RPS7	Louise Daugherty commented on gene: RPS7: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612563 Diamond-Blackfan anemia 8; PMID(s): 19061985; 23718193; 27882484
08 Feb 2019	Rare anaemia v0.11	RPL35A	Louise Daugherty commented on gene: RPL35A: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL35A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612528 Diamond-Blackfan anemia 5; PMID(s): 18535205
08 Feb 2019	Rare anaemia v0.11	RPL27	Louise Daugherty commented on gene: RPL27: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL27; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; PMID(s): 25424902
08 Feb 2019	Rare anaemia v0.11	RPL26	Louise Daugherty commented on gene: RPL26: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL26; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614900 ?Diamond-Blackfan anemia 11; PMID(s): 22431104
08 Feb 2019	Rare anaemia v0.11	RPL15	Louise Daugherty commented on gene: RPL15: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL15; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615550 ?Diamond-Blackfan anaemia 12; PMID(s): 23812780
08 Feb 2019	Rare anaemia v0.11	RPL11	Louise Daugherty commented on gene: RPL11: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612562 Diamond-Blackfan anemia 7; PMID(s): 19061985; 23718193; 23812780
08 Feb 2019	Rare anaemia v0.11	RPS10	Louise Daugherty commented on gene: RPS10: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPS10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613308 Diamond-Blackfan anemia 9; PMID(s): 20116044; 20116044
08 Feb 2019	Rare anaemia v0.11	RPL9	Louise Daugherty commented on gene: RPL9: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL9; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: ?Diamond-Blackfan anaemia; PMID(s): 29114930
08 Feb 2019	Rare anaemia v0.11	RPL5	Louise Daugherty commented on gene: RPL5: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 612561 Diamond-Blackfan anemia 6; PMID(s): 19061985
08 Feb 2019	Rare anaemia v0.11	HBG2	Louise Daugherty commented on gene: HBG2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; PMID(s): 26500940
08 Feb 2019	Rare anaemia v0.11	HBG1	Louise Daugherty commented on gene: HBG1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; PMID(s): 26500940
08 Feb 2019	Rare anaemia v0.11	HBE1	Louise Daugherty reviewed gene: HBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	HBD	Louise Daugherty commented on gene: HBD: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; PMID(s): 27630894; 25490067
08 Feb 2019	Rare anaemia v0.11	HBB	Louise Daugherty commented on gene: HBB: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 603903 Sickle cell disease; 613985 Beta thalassaemia; 603902 Dominand inclusion body beta thalassaemia;141749 Delta-beta thalassaemia; PMID(s): 23637309; 20067565
08 Feb 2019	Rare anaemia v0.11	HBA2	Louise Daugherty commented on gene: HBA2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604131 Alpha thalassaemia; PMID(s): 2050764
08 Feb 2019	Rare anaemia v0.11	HBA1	Louise Daugherty commented on gene: HBA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604131 Alpha thalassaemia; PMID(s): 2050764
08 Feb 2019	Rare anaemia v0.11	ATRX	Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	SEC23B	Louise Daugherty commented on gene: SEC23B: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 Congenital dyserythropoietic anaemia type 2; PMID(s): 19561605
08 Feb 2019	Rare anaemia v0.11	LPIN2	Louise Daugherty commented on gene: LPIN2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LPIN2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609628 Majeed syndrome; PMID(s): 15994876; 17330256
08 Feb 2019	Rare anaemia v0.11	KLF1	Louise Daugherty commented on gene: KLF1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLF1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613673 Congenital dyserythropoietic anaemia type 4; PMID(s): 21055716; 29200155
08 Feb 2019	Rare anaemia v0.11	KIF23	Louise Daugherty commented on gene: KIF23: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 605064 Congenital dyserythropoietic anaemia type 3; PMID(s): 23570799
08 Feb 2019	Rare anaemia v0.11	GATA1	Louise Daugherty commented on gene: GATA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): 10700180; 11809723
08 Feb 2019	Rare anaemia v0.11	COX4I2	Louise Daugherty commented on gene: COX4I2: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: COX4I2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; PMID(s): 19268275
08 Feb 2019	Rare anaemia v0.11	C15orf41	Louise Daugherty commented on gene: C15orf41: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: C15ORF41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615631 Congenital dyserythropoietic anaemia type 1b; PMID(s): 29885034; 29031773; 23716552
08 Feb 2019	Rare anaemia v0.11	CDAN1	Louise Daugherty commented on gene: CDAN1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224120 Congenital dyserythropoietic anaemia type 1a; PMID(s): 12434312; 16098079
08 Feb 2019	Rare anaemia v0.11	TPI1	Louise Daugherty commented on gene: TPI1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; PMID(s): 11698297; 9338582
08 Feb 2019	Rare anaemia v0.11	PKLR	Louise Daugherty commented on gene: PKLR: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PKLR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266200 Pyruvate kinase deficiency; PMID(s): 7706479; 8664896; 14014643
08 Feb 2019	Rare anaemia v0.11	PGK1	Louise Daugherty reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	PFKM	Louise Daugherty commented on gene: PFKM: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PFKM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 232800 Glycogen storage disease VII; PMID(s): 2140573; 7513946
08 Feb 2019	Rare anaemia v0.11	NT5C3A	Louise Daugherty commented on gene: NT5C3A: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NT5C3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; PMID(s): 11369620; 12714505
08 Feb 2019	Rare anaemia v0.11	HK1	Louise Daugherty commented on gene: HK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 235700 Hemolytic anemia due to hexokinase deficiency; PMID(s): 12393545; 7655856
08 Feb 2019	Rare anaemia v0.11	GSS	Louise Daugherty commented on gene: GSS: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GSS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 266130 Glutathione synthetase deficiency; PMID(s): 8896573
08 Feb 2019	Rare anaemia v0.11	GPX1	Louise Daugherty reviewed gene: GPX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	GPI	Louise Daugherty commented on gene: GPI: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GPI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; PMID(s): 411100
08 Feb 2019	Rare anaemia v0.11	GCLC	Louise Daugherty commented on gene: GCLC: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GCLC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; PMID(s): 10515893
08 Feb 2019	Rare anaemia v0.11	G6PD	Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); PMID(s): 18177777
08 Feb 2019	Rare anaemia v0.11	CYB5R3	Louise Daugherty commented on gene: CYB5R3: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5R3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250800 Methemoglobinemia; PMID(s): 15921385; 18318771
08 Feb 2019	Rare anaemia v0.11	CYB5A	Louise Daugherty reviewed gene: CYB5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	ALDOA	Louise Daugherty commented on gene: ALDOA: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ALDOA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 611881 Glycogen storage disease XII; PMID(s): 7331996; 8598869
08 Feb 2019	Rare anaemia v0.11	XK	Louise Daugherty reviewed gene: XK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
08 Feb 2019	Rare anaemia v0.11	SPTB	Louise Daugherty commented on gene: SPTB: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616649 Spherocytosis, type 2;617948 Elliptocytosis-3; PMID(s): 8226774; 3276733
08 Feb 2019	Rare anaemia v0.11	SPTA1	Louise Daugherty commented on gene: SPTA1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; PMID(s): 4077050; 3940543; 1679439
08 Feb 2019	Rare anaemia v0.11	SLC4A1	Louise Daugherty commented on gene: SLC4A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC4A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis;612653 Spherocytosis, type 4; PMID(s): 1722314
08 Feb 2019	Rare anaemia v0.11	SLC2A1	Louise Daugherty commented on gene: SLC2A1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC2A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; PMID(s): 21791420; 22492876
08 Feb 2019	Rare anaemia v0.11	RHAG	Louise Daugherty commented on gene: RHAG: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RHAG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 185000 Overhydrated hereditary stomatocytosis;268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): 18931342
08 Feb 2019	Rare anaemia v0.11	PIEZO1	Louise Daugherty commented on gene: PIEZO1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PIEZO1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 616843 Lymphatic malformation 6; PMID(s): 22529292; 23695678
08 Feb 2019	Rare anaemia v0.11	KCNN4	Louise Daugherty commented on gene: KCNN4: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KCNN4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616689 Dehydrated hereditary stomatocytosis 2; PMID(s): 26148990; 26178367
08 Feb 2019	Rare anaemia v0.11	EPB42	Louise Daugherty commented on gene: EPB42: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612690 Spherocytosis, type 5; PMID(s): 1558976; 7772513; 12176912
08 Feb 2019	Rare anaemia v0.11	EPB41	Louise Daugherty commented on gene: EPB41: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPB41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 611804 Elliptocytosis-1; PMID(s): 3134067; 1430200; 8423235
08 Feb 2019	Rare anaemia v0.11	ANK1	Louise Daugherty commented on gene: ANK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 182900 Spherocytosis, type 1; PMID(s): 7883994; 9590147; 11167760
08 Feb 2019	Rare anaemia v0.11	AK1	Louise Daugherty commented on gene: AK1: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): 10233365; 9432020; 12649162
08 Feb 2019	Rare anaemia v0.10	UMPS	Frances Smith reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: 258900 Orotic aciduria with megaloblastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	TCN2	Frances Smith reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7849710, 10518276; Phenotypes: 275350 Transcobalamin II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Feb 2019	Rare anaemia v0.10	HSPA9	Frances Smith reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26491070; Phenotypes: 182170 Sideroblastic anaemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Feb 2019	Rare anaemia v0.10	SLC19A2	Frances Smith edited their review of gene: SLC19A2: Added comment: Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Feb 2019	Rare anaemia v0.10	MTRR	Frances Smith reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12555939, 15714522; Phenotypes: 236270 Homocystinuria-megaloblastic anemia, cbl E type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	MTR	Frances Smith reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683607, 12068375; Phenotypes: 250940 Homocystinuria-megaloblastic anemia, cblG complementation type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GIF	Frances Smith reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 14576042, 15738392; Phenotypes: 261000 Intrinsic factor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	FTCD	Frances Smith reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: 229100 Glutamate formiminotransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	DHFR	Frances Smith reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 21310276, 21310277; Phenotypes: 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	CUBN	Frances Smith reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15024727, 17285242; Phenotypes: 261100 Megaloblastic anemia-1, Finnish type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	AMN	Frances Smith reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 12590260, 17285242; Phenotypes: 261100 Megaloblastic anemia-1, Norwegian type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	YARS2	Frances Smith reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20598274, 23918765, 22504945; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SLC25A38	Frances Smith reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: 205950 Pyridoxine refractory sideroblastic anaemia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SLC19A2	Frances Smith reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391221, 10978358; Phenotypes: 249270 Thiamine-responsive megaloblastic anemia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SF3B1	Frances Smith reviewed gene: SF3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28188970, 21995386; Phenotypes: 605590 Refractory anaemia with ring sideroblasts; Mode of inheritance: Unknown; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	PUS1	Frances Smith reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108122, 15772074; Phenotypes: 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GLRX5	Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 17485548, 25342667, 20364084; Phenotypes: 616860 Pyridoxine refractory sideroblastic anaemia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	ALAS2	Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10029606; Phenotypes: 300751 Sideroblastic anaemia 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	ABCB7	Frances Smith reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: 4045952, 11050011, 11843825, ; Phenotypes: 301310 Sideroblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GATA1	Frances Smith edited their review of gene: GATA1: Added comment: Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.; Changed publications: 22706301, 30228860, 24766296; Changed phenotypes: Diamond-Blackfan anaemia
08 Feb 2019	Rare anaemia v0.10	RPS29	Frances Smith reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: 24829207; Phenotypes: 615909 Diamond-Blackfan anemia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPS26	Frances Smith reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 20116044, 23812780, 24942156; Phenotypes: 613309 Diamond-Blackfan anemia 10; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPS24	Frances Smith reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186470, 23812780; Phenotypes: 610629 Diamond-blackfan anemia 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPS19	Frances Smith reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 9988267; Phenotypes: 105650 Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPS7	Frances Smith reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985, 23718193, 27882484; Phenotypes: 612563 Diamond-Blackfan anemia 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL35A	Frances Smith reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18535205; Phenotypes: 612528 Diamond-Blackfan anemia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL27	Frances Smith reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: ; Publications: 25424902; Phenotypes: 617408 ?Diamond-Blackfan anemia 16; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL26	Frances Smith reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: 614900 ?Diamond-Blackfan anemia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL15	Frances Smith reviewed gene: RPL15: Rating: RED; Mode of pathogenicity: ; Publications: 23812780; Phenotypes: 615550 ?Diamond-Blackfan anaemia 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL11	Frances Smith reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985, 23718193, 23812780; Phenotypes: 612562 Diamond-Blackfan anemia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPS10	Frances Smith reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20116044, 20116044; Phenotypes: 613308 Diamond-Blackfan anemia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL9	Frances Smith reviewed gene: RPL9: Rating: RED; Mode of pathogenicity: ; Publications: 29114930; Phenotypes: ?Diamond-Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RPL5	Frances Smith reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19061985; Phenotypes: 612561 Diamond-Blackfan anemia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBG2	Frances Smith reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26500940; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBG1	Frances Smith reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26500940; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBE1	Frances Smith reviewed gene: HBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17712794; Phenotypes: Epsilon-gamma-delta-beta thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBD	Frances Smith reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27630894, 25490067; Phenotypes: 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBB	Frances Smith reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23637309, 20067565; Phenotypes: 603903 Sickle cell disease, 613985 Beta thalassaemia, 603902 Dominand inclusion body beta thalassaemia, 141749 Delta-beta thalassaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBA2	Frances Smith reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 2050764; Phenotypes: 604131 Alpha thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HBA1	Frances Smith reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2050764; Phenotypes: 604131 Alpha thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	ATRX	Frances Smith reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11449489, 19444090, 17579672; Phenotypes: 301040 Alpha-thalassemia/mental retardation syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SEC23B	Frances Smith reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19561605; Phenotypes: 224100 Congenital dyserythropoietic anaemia type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	LPIN2	Frances Smith reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15994876, 17330256 ; Phenotypes: 609628 Majeed syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	KLF1	Frances Smith reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21055716, 29200155; Phenotypes: 613673 Congenital dyserythropoietic anaemia type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	KIF23	Frances Smith reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 23570799; Phenotypes: 605064 Congenital dyserythropoietic anaemia type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GATA1	Frances Smith reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 11809723; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	COX4I2	Frances Smith reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	C15orf41	Frances Smith reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: 29885034, 29031773, 23716552; Phenotypes: 615631 Congenital dyserythropoietic anaemia type 1b; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	CDAN1	Frances Smith reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12434312, 16098079; Phenotypes: 224120 Congenital dyserythropoietic anaemia type 1a; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	TPI1	Frances Smith reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11698297, 9338582; Phenotypes: 615512 Hemolytic anemia due to triosephosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	PKLR	Frances Smith reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 7706479, 8664896, 14014643; Phenotypes: 266200 Pyruvate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	PGK1	Frances Smith reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16740138, 6412025; Phenotypes: 300653 Phosphoglycerate kinase 1 deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	PFKM	Frances Smith reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140573, 7513946; Phenotypes: 232800 Glycogen storage disease VII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	NT5C3A	Frances Smith reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11369620, 12714505; Phenotypes: 266120 Anemia, hemolytic, due to UMPH1 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	HK1	Frances Smith reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12393545, 7655856; Phenotypes: 235700 Hemolytic anemia due to hexokinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GSS	Frances Smith reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896573; Phenotypes: 266130 Glutathione synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GPX1	Frances Smith reviewed gene: GPX1: Rating: RED; Mode of pathogenicity: ; Publications: 1131421; Phenotypes: 614164 Hemolytic anemia due to glutathione peroxidase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GPI	Frances Smith reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: 411100; Phenotypes: 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	GCLC	Frances Smith reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10515893; Phenotypes: 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	G6PD	Frances Smith reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: 18177777; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	CYB5R3	Frances Smith reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15921385, 18318771; Phenotypes: 250800 Methemoglobinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	CYB5A	Frances Smith reviewed gene: CYB5A: Rating: RED; Mode of pathogenicity: ; Publications: 20080843, 8168836; Phenotypes: 250790 Methemoglobinemia and ambiguous genitalia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	ALDOA	Frances Smith reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 7331996, 8598869; Phenotypes: 611881 Glycogen storage disease XII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	XK	Frances Smith reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: 17683354, 11761473; Phenotypes: 300842 McLeod syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SPTB	Frances Smith reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8226774, 3276733; Phenotypes: 616649 Spherocytosis, type 2, 617948 Elliptocytosis-3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SPTA1	Frances Smith reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 4077050, 3940543, 1679439; Phenotypes: 130600 Elliptocytosis-2, 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SLC4A1	Frances Smith reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1722314; Phenotypes: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis, 612653 Spherocytosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	SLC2A1	Frances Smith reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21791420, 22492876; Phenotypes: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	RHAG	Frances Smith reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: 18931342; Phenotypes: 185000 Overhydrated hereditary stomatocytosis, 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	PIEZO1	Frances Smith reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22529292, 23695678; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 616843 Lymphatic malformation 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	KCNN4	Frances Smith reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26148990, 26178367; Phenotypes: 616689 Dehydrated hereditary stomatocytosis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	EPB42	Frances Smith reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: 1558976, 7772513, 12176912; Phenotypes: 612690 Spherocytosis, type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	EPB41	Frances Smith reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: 3134067, 1430200, 8423235; Phenotypes: 611804 Elliptocytosis-1; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	ANK1	Frances Smith reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7883994, 9590147, 11167760; Phenotypes: 182900 Spherocytosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.10	AK1	Frances Smith reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233365, 9432020, 12649162; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
08 Feb 2019	Rare anaemia v0.9	UMPS	Louise Daugherty Added phenotypes 258900 Orotic aciduria with megaloblastic anaemia for gene: UMPS Publications for gene UMPS were changed from to 9042911
08 Feb 2019	Rare anaemia v0.9	TCN2	Louise Daugherty Added phenotypes 275350 Transcobalamin II deficiency for gene: TCN2 Publications for gene TCN2 were changed from 7980584; 7849710; 18956254; 24305960; 20352340 to 7849710; 10518276
08 Feb 2019	Rare anaemia v0.9	HSPA9	Louise Daugherty Added phenotypes 182170 Sideroblastic anaemia 4 for gene: HSPA9 Publications for gene HSPA9 were changed from to 26491070
08 Feb 2019	Rare anaemia v0.9	SLC19A2	Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2
08 Feb 2019	Rare anaemia v0.9	MTRR	Louise Daugherty Added phenotypes 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR Publications for gene MTRR were changed from 12555939; 15714522; 9501215 to 12555939; 15714522
08 Feb 2019	Rare anaemia v0.9	MTR	Louise Daugherty Added phenotypes 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR Publications for gene MTR were changed from to 9683607; 12068375
08 Feb 2019	Rare anaemia v0.9	GIF	Louise Daugherty Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF Publications for gene GIF were changed from to 14576042; 15738392
08 Feb 2019	Rare anaemia v0.9	FTCD	Louise Daugherty Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD Publications for gene FTCD were changed from to 12815595
08 Feb 2019	Rare anaemia v0.9	DHFR	Louise Daugherty Added phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR Publications for gene DHFR were changed from 21310277 to 21310276; 21310277
08 Feb 2019	Rare anaemia v0.9	CUBN	Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN Publications for gene CUBN were changed from 15024727 to 17285242; 15024727
08 Feb 2019	Rare anaemia v0.9	AMN	Louise Daugherty Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type for gene: AMN Publications for gene AMN were changed from 15024727 to 12590260; 17285242
08 Feb 2019	Rare anaemia v0.9	YARS2	Louise Daugherty Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2 Publications for gene YARS2 were changed from 24430573; 24344687; 20598274 to 22504945; 23918765; 20598274
08 Feb 2019	Rare anaemia v0.9	SLC25A38	Louise Daugherty Added phenotypes 205950 Pyridoxine refractory sideroblastic anaemia 2 for gene: SLC25A38
08 Feb 2019	Rare anaemia v0.9	SLC19A2	Louise Daugherty Added phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2 Publications for gene SLC19A2 were changed from 10391221 to 10978358; 10391221
08 Feb 2019	Rare anaemia v0.9	SF3B1	Louise Daugherty Added phenotypes 605590 Refractory anaemia with ring sideroblasts for gene: SF3B1 Publications for gene SF3B1 were changed from to 21995386; 28188970
08 Feb 2019	Rare anaemia v0.9	PUS1	Louise Daugherty Added phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 for gene: PUS1 Publications for gene PUS1 were changed from 25227147; 17056637; 15108122 to 15772074; 15108122
08 Feb 2019	Rare anaemia v0.9	GLRX5	Louise Daugherty Added phenotypes 616860 Pyridoxine refractory sideroblastic anaemia 3 for gene: GLRX5
08 Feb 2019	Rare anaemia v0.9	ALAS2	Louise Daugherty Added phenotypes 300751 Sideroblastic anaemia 1 for gene: ALAS2
08 Feb 2019	Rare anaemia v0.9	ABCB7	Louise Daugherty Added phenotypes 301310 Sideroblastic anaemia for gene: ABCB7 Publications for gene ABCB7 were changed from 10196363; 11050011; 11843825; 24255920; 20408841; 22398176 to 11843825; 4045952; 11050011
08 Feb 2019	Rare anaemia v0.9	GATA1	Louise Daugherty Added phenotypes Diamond-Blackfan anaemia for gene: GATA1 Publications for gene GATA1 were changed from 10700180; 11809723 to 22706301; 24766296; 30228860
08 Feb 2019	Rare anaemia v0.9	RPS29	Louise Daugherty Added phenotypes 615909 Diamond-Blackfan anemia 13 for gene: RPS29 Publications for gene RPS29 were changed from to 24829207
08 Feb 2019	Rare anaemia v0.9	RPS26	Louise Daugherty Added phenotypes 613309 Diamond-Blackfan anemia 10 for gene: RPS26 Publications for gene RPS26 were changed from 24675553; 25946618; 24942156; 20116044 to 23812780; 24942156; 20116044
08 Feb 2019	Rare anaemia v0.9	RPS24	Louise Daugherty Added phenotypes 610629 Diamond-blackfan anemia 3 for gene: RPS24 Publications for gene RPS24 were changed from 17186470; 19689926; 19773262; 25946618; 8647458; 2210388 to 23812780; 17186470
08 Feb 2019	Rare anaemia v0.9	RPS19	Louise Daugherty Added phenotypes 105650 Diamond-Blackfan anemia 1 for gene: RPS19 Publications for gene RPS19 were changed from 25946618; 24675553; 15384984; 9988267 to 9988267
08 Feb 2019	Rare anaemia v0.9	RPS7	Louise Daugherty Added phenotypes 612563 Diamond-Blackfan anemia 8 for gene: RPS7 Publications for gene RPS7 were changed from 25946618; 23718193; 27882484; 19061985 to 23718193; 27882484; 19061985
08 Feb 2019	Rare anaemia v0.9	RPL35A	Louise Daugherty Added phenotypes 612528 Diamond-Blackfan anemia 5 for gene: RPL35A Publications for gene RPL35A were changed from 25946618; 18535205 to 18535205
08 Feb 2019	Rare anaemia v0.9	RPL27	Louise Daugherty Added phenotypes 617408 ?Diamond-Blackfan anemia 16 for gene: RPL27
08 Feb 2019	Rare anaemia v0.9	RPL26	Louise Daugherty Added phenotypes 614900 ?Diamond-Blackfan anemia 11 for gene: RPL26 Publications for gene RPL26 were changed from to 22431104
08 Feb 2019	Rare anaemia v0.9	RPL15	Louise Daugherty Added phenotypes 615550 ?Diamond-Blackfan anaemia 12 for gene: RPL15 Publications for gene RPL15 were changed from 23812780; 19438500 to 23812780
08 Feb 2019	Rare anaemia v0.9	RPL11	Louise Daugherty Added phenotypes 612562 Diamond-Blackfan anemia 7 for gene: RPL11 Publications for gene RPL11 were changed from 19191325; 19061985 to 23718193; 23812780; 19061985
08 Feb 2019	Rare anaemia v0.9	RPS10	Louise Daugherty Added phenotypes 613308 Diamond-Blackfan anemia 9 for gene: RPS10 Publications for gene RPS10 were changed from 25946618; 20116044; 23718193 to 20116044
08 Feb 2019	Rare anaemia v0.9	RPL9	Louise Daugherty Added phenotypes ?Diamond-Blackfan anaemia for gene: RPL9 Publications for gene RPL9 were changed from 23718193; 20116044 to 29114930
08 Feb 2019	Rare anaemia v0.9	RPL5	Louise Daugherty Added phenotypes 612561 Diamond-Blackfan anemia 6 for gene: RPL5 Publications for gene RPL5 were changed from 25946618; 19191325; 19061985 to 19061985
08 Feb 2019	Rare anaemia v0.9	HBG2	Louise Daugherty Added phenotypes 141749 Hereditary persistance of fetal haemoglobin for gene: HBG2 Publications for gene HBG2 were changed from to 26500940
08 Feb 2019	Rare anaemia v0.9	HBG1	Louise Daugherty Added phenotypes 141749 Hereditary persistance of fetal haemoglobin for gene: HBG1 Publications for gene HBG1 were changed from to 26500940
08 Feb 2019	Rare anaemia v0.9	HBE1	Louise Daugherty Added phenotypes Epsilon-gamma-delta-beta thalassaemia for gene: HBE1 Publications for gene HBE1 were changed from to 17712794
08 Feb 2019	Rare anaemia v0.9	HBD	Louise Daugherty Added phenotypes 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore for gene: HBD Publications for gene HBD were changed from to 27630894; 25490067
08 Feb 2019	Rare anaemia v0.9	HBB	Louise Daugherty Added phenotypes 603903 Sickle cell disease; 603902 Dominand inclusion body beta thalassaemia; 141749 Delta-beta thalassaemia; 613985 Beta thalassaemia for gene: HBB Publications for gene HBB were changed from to 23637309; 20067565
08 Feb 2019	Rare anaemia v0.9	HBA2	Louise Daugherty Added phenotypes 604131 Alpha thalassaemia for gene: HBA2 Publications for gene HBA2 were changed from to 2050764
08 Feb 2019	Rare anaemia v0.9	HBA1	Louise Daugherty Added phenotypes 604131 Alpha thalassaemia for gene: HBA1 Publications for gene HBA1 were changed from to 2050764
08 Feb 2019	Rare anaemia v0.9	ATRX	Louise Daugherty Added phenotypes 301040 Alpha-thalassemia/mental retardation syndrome for gene: ATRX Publications for gene ATRX were changed from to 11449489; 17579672; 19444090
08 Feb 2019	Rare anaemia v0.9	SEC23B	Louise Daugherty Added phenotypes 224100 Congenital dyserythropoietic anaemia type 2 for gene: SEC23B Publications for gene SEC23B were changed from 19561605; 19621418 to 19561605
08 Feb 2019	Rare anaemia v0.9	LPIN2	Louise Daugherty Added phenotypes 609628 Majeed syndrome for gene: LPIN2 Publications for gene LPIN2 were changed from 11795677; 17330256; 2809904; 10969284; 23087183 to 17330256; 15994876
08 Feb 2019	Rare anaemia v0.9	KLF1	Louise Daugherty Added phenotypes 613673 Congenital dyserythropoietic anaemia type 4 for gene: KLF1 Publications for gene KLF1 were changed from 21055716 to 21055716; 29200155
08 Feb 2019	Rare anaemia v0.9	KIF23	Louise Daugherty Added phenotypes 605064 Congenital dyserythropoietic anaemia type 3 for gene: KIF23 Publications for gene KIF23 were changed from 7711721; 7323912; 23570799 to 23570799
08 Feb 2019	Rare anaemia v0.9	GATA1	Louise Daugherty Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1 Publications for gene GATA1 were changed from 22706301; 24952648; 24766296; 10700180; 24453067 to 10700180; 11809723
08 Feb 2019	Rare anaemia v0.9	COX4I2	Louise Daugherty Added phenotypes 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2
08 Feb 2019	Rare anaemia v0.9	C15orf41	Louise Daugherty Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b for gene: C15orf41 Publications for gene C15orf41 were changed from 9220189; 16643452; 23716552 to 23716552; 29031773; 29885034
08 Feb 2019	Rare anaemia v0.9	CDAN1	Louise Daugherty Added phenotypes 224120 Congenital dyserythropoietic anaemia type 1a for gene: CDAN1 Publications for gene CDAN1 were changed from 12434312 to 16098079; 12434312
08 Feb 2019	Rare anaemia v0.9	TPI1	Louise Daugherty Added phenotypes 615512 Hemolytic anemia due to triosephosphate isomerase deficiency for gene: TPI1 Publications for gene TPI1 were changed from 10910933; 17879449; 20374271; 7485100 to 9338582; 11698297
08 Feb 2019	Rare anaemia v0.9	PKLR	Louise Daugherty Added phenotypes 266200 Pyruvate kinase deficiency for gene: PKLR Publications for gene PKLR were changed from 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052 to 7706479; 14014643; 8664896
08 Feb 2019	Rare anaemia v0.9	PGK1	Louise Daugherty Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Publications for gene PGK1 were changed from to 6412025; 16740138
08 Feb 2019	Rare anaemia v0.9	PFKM	Louise Daugherty Added phenotypes 232800 Glycogen storage disease VII for gene: PFKM Publications for gene PFKM were changed from 7479776; 7513946; 8889589 to 2140573; 7513946
08 Feb 2019	Rare anaemia v0.9	NT5C3A	Louise Daugherty Added phenotypes 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A Publications for gene NT5C3A were changed from 12714505; 12930399; 11369620 to 12714505; 11369620
08 Feb 2019	Rare anaemia v0.9	HK1	Louise Daugherty Added phenotypes 235700 Hemolytic anemia due to hexokinase deficiency for gene: HK1
08 Feb 2019	Rare anaemia v0.9	GSS	Louise Daugherty Added phenotypes 266130 Glutathione synthetase deficiency for gene: GSS Publications for gene GSS were changed from 16435214; 8896573; 10450861; 11167850 to 8896573
08 Feb 2019	Rare anaemia v0.9	GPX1	Louise Daugherty Added phenotypes 614164 Hemolytic anemia due to glutathione peroxidase deficiency for gene: GPX1 Publications for gene GPX1 were changed from to 1131421
08 Feb 2019	Rare anaemia v0.9	GPI	Louise Daugherty Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency for gene: GPI Publications for gene GPI were changed from 4076245; 9856489; 8499925; 8417789 to 411100
08 Feb 2019	Rare anaemia v0.9	GCLC	Louise Daugherty Added phenotypes 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC Publications for gene GCLC were changed from 8634459; 10515893; 12663448; 18024385; 10733484 to 10515893
08 Feb 2019	Rare anaemia v0.9	G6PD	Louise Daugherty Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism) for gene: G6PD Publications for gene G6PD were changed from 1999409 to 18177777
08 Feb 2019	Rare anaemia v0.9	CYB5R3	Louise Daugherty Added phenotypes 250800 Methemoglobinemia for gene: CYB5R3 Publications for gene CYB5R3 were changed from to 18318771; 15921385
08 Feb 2019	Rare anaemia v0.9	CYB5A	Louise Daugherty Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A Publications for gene CYB5A were changed from to 8168836; 20080843
08 Feb 2019	Rare anaemia v0.9	ALDOA	Louise Daugherty Added phenotypes 611881 Glycogen storage disease XII for gene: ALDOA Publications for gene ALDOA were changed from 8598869; 2825199; 14615364 to 8598869; 7331996
08 Feb 2019	Rare anaemia v0.9	XK	Louise Daugherty Added phenotypes 300842 McLeod syndrome for gene: XK Publications for gene XK were changed from to 17683354; 11761473
08 Feb 2019	Rare anaemia v0.9	SPTB	Louise Daugherty Added phenotypes 617948 Elliptocytosis-3; 616649 Spherocytosis, type 2 for gene: SPTB Publications for gene SPTB were changed from 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 to 3276733; 8226774
08 Feb 2019	Rare anaemia v0.9	SPTA1	Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; 130600 Elliptocytosis-2 for gene: SPTA1 Publications for gene SPTA1 were changed from 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680 to 3940543; 4077050; 1679439
08 Feb 2019	Rare anaemia v0.9	SLC4A1	Louise Daugherty Added phenotypes 612653 Spherocytosis, type 4; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis for gene: SLC4A1 Publications for gene SLC4A1 were changed from 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779 to 1722314
08 Feb 2019	Rare anaemia v0.9	SLC2A1	Louise Daugherty Added phenotypes 608885 Stomatin-deficient cryohydrocytosis with neurologic defects for gene: SLC2A1 Publications for gene SLC2A1 were changed from 22492876; 21791420; 15180870 to 22492876; 21791420
08 Feb 2019	Rare anaemia v0.9	RHAG	Louise Daugherty Added phenotypes 185000 Overhydrated hereditary stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG Publications for gene RHAG were changed from 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778 to 18931342
08 Feb 2019	Rare anaemia v0.9	PIEZO1	Louise Daugherty Added phenotypes 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema for gene: PIEZO1 Publications for gene PIEZO1 were changed from 22529292; 23973043; 23695678; 23479567; 16898969; 23581886 to 23695678; 22529292
08 Feb 2019	Rare anaemia v0.9	KCNN4	Louise Daugherty Added phenotypes 616689 Dehydrated hereditary stomatocytosis 2 for gene: KCNN4 Publications for gene KCNN4 were changed from to 26178367; 26148990
08 Feb 2019	Rare anaemia v0.9	EPB42	Louise Daugherty Added phenotypes 612690 Spherocytosis, type 5 for gene: EPB42 Publications for gene EPB42 were changed from 15071790; 7772513; 7803799; 2386772; 1558976 to 12176912; 7772513; 1558976
08 Feb 2019	Rare anaemia v0.9	EPB41	Louise Daugherty Added phenotypes 611804 Elliptocytosis-1 for gene: EPB41 Publications for gene EPB41 were changed from 1430200; 3755799; 3134067 to 8423235; 1430200; 3134067
08 Feb 2019	Rare anaemia v0.9	ANK1	Louise Daugherty Added phenotypes 182900 Spherocytosis, type 1 for gene: ANK1 Publications for gene ANK1 were changed from 1832935; 17327413; 8640229 to 7883994; 11167760; 9590147
08 Feb 2019	Rare anaemia v0.9	AK1	Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1 Publications for gene AK1 were changed from to 10233365; 9432020; 12649162
08 Feb 2019	Rare anaemia v0.8	UMPS	Louise Daugherty Source NHS GMS was added to UMPS.
08 Feb 2019	Rare anaemia v0.8	GIF	Louise Daugherty Source NHS GMS was added to GIF.
08 Feb 2019	Rare anaemia v0.8	FTCD	Louise Daugherty Source NHS GMS was added to FTCD.
08 Feb 2019	Rare anaemia v0.8	SF3B1	Louise Daugherty Source NHS GMS was added to SF3B1.
08 Feb 2019	Rare anaemia v0.8	HBE1	Louise Daugherty Source NHS GMS was added to HBE1.
08 Feb 2019	Rare anaemia v0.8	ATRX	Louise Daugherty Source NHS GMS was added to ATRX.
08 Feb 2019	Rare anaemia v0.8	PGK1	Louise Daugherty Source NHS GMS was added to PGK1.
08 Feb 2019	Rare anaemia v0.8	GPX1	Louise Daugherty Source NHS GMS was added to GPX1.
08 Feb 2019	Rare anaemia v0.8	CYB5A	Louise Daugherty Source NHS GMS was added to CYB5A.
08 Feb 2019	Rare anaemia v0.8	XK	Louise Daugherty Source NHS GMS was added to XK.
08 Feb 2019	Rare anaemia v0.7	UMPS	Louise Daugherty gene: UMPS was added gene: UMPS was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: UMPS was set to
08 Feb 2019	Rare anaemia v0.7	TCN2	Louise Daugherty Source London South GLH was added to TCN2.
08 Feb 2019	Rare anaemia v0.7	HSPA9	Louise Daugherty Source London South GLH was added to HSPA9.
08 Feb 2019	Rare anaemia v0.7	MTRR	Louise Daugherty Source London South GLH was added to MTRR.
08 Feb 2019	Rare anaemia v0.7	MTR	Louise Daugherty Source London South GLH was added to MTR.
08 Feb 2019	Rare anaemia v0.7	GIF	Louise Daugherty gene: GIF was added gene: GIF was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: GIF was set to
08 Feb 2019	Rare anaemia v0.7	FTCD	Louise Daugherty gene: FTCD was added gene: FTCD was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: FTCD was set to
08 Feb 2019	Rare anaemia v0.7	DHFR	Louise Daugherty Source London South GLH was added to DHFR.
08 Feb 2019	Rare anaemia v0.7	CUBN	Louise Daugherty Source London South GLH was added to CUBN.
08 Feb 2019	Rare anaemia v0.7	AMN	Louise Daugherty Source London South GLH was added to AMN.
08 Feb 2019	Rare anaemia v0.7	YARS2	Louise Daugherty Source London South GLH was added to YARS2.
08 Feb 2019	Rare anaemia v0.7	SLC25A38	Louise Daugherty Source London South GLH was added to SLC25A38.
08 Feb 2019	Rare anaemia v0.7	SLC19A2	Louise Daugherty Source London South GLH was added to SLC19A2.
08 Feb 2019	Rare anaemia v0.7	SF3B1	Louise Daugherty gene: SF3B1 was added gene: SF3B1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: SF3B1 was set to
08 Feb 2019	Rare anaemia v0.7	PUS1	Louise Daugherty Source London South GLH was added to PUS1.
08 Feb 2019	Rare anaemia v0.7	GLRX5	Louise Daugherty Source London South GLH was added to GLRX5.
08 Feb 2019	Rare anaemia v0.7	ALAS2	Louise Daugherty Source London South GLH was added to ALAS2.
08 Feb 2019	Rare anaemia v0.7	ABCB7	Louise Daugherty Source London South GLH was added to ABCB7.
08 Feb 2019	Rare anaemia v0.7	RPS29	Louise Daugherty Source London South GLH was added to RPS29.
08 Feb 2019	Rare anaemia v0.7	RPS26	Louise Daugherty Source London South GLH was added to RPS26.
08 Feb 2019	Rare anaemia v0.7	RPS24	Louise Daugherty Source London South GLH was added to RPS24.
08 Feb 2019	Rare anaemia v0.7	RPS19	Louise Daugherty Source London South GLH was added to RPS19.
08 Feb 2019	Rare anaemia v0.7	RPS7	Louise Daugherty Source London South GLH was added to RPS7.
08 Feb 2019	Rare anaemia v0.7	RPL35A	Louise Daugherty Source London South GLH was added to RPL35A.
08 Feb 2019	Rare anaemia v0.7	RPL27	Louise Daugherty Source London South GLH was added to RPL27.
08 Feb 2019	Rare anaemia v0.7	RPL26	Louise Daugherty Source London South GLH was added to RPL26.
08 Feb 2019	Rare anaemia v0.7	RPL15	Louise Daugherty Source London South GLH was added to RPL15.
08 Feb 2019	Rare anaemia v0.7	RPL11	Louise Daugherty Source London South GLH was added to RPL11.
08 Feb 2019	Rare anaemia v0.7	RPS10	Louise Daugherty Source London South GLH was added to RPS10.
08 Feb 2019	Rare anaemia v0.7	RPL9	Louise Daugherty Source London South GLH was added to RPL9.
08 Feb 2019	Rare anaemia v0.7	RPL5	Louise Daugherty Source London South GLH was added to RPL5.
08 Feb 2019	Rare anaemia v0.7	HBG2	Louise Daugherty Source London South GLH was added to HBG2.
08 Feb 2019	Rare anaemia v0.7	HBG1	Louise Daugherty Source London South GLH was added to HBG1.
08 Feb 2019	Rare anaemia v0.7	HBE1	Louise Daugherty gene: HBE1 was added gene: HBE1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: HBE1 was set to
08 Feb 2019	Rare anaemia v0.7	HBD	Louise Daugherty Source London South GLH was added to HBD.
08 Feb 2019	Rare anaemia v0.7	HBB	Louise Daugherty Source London South GLH was added to HBB.
08 Feb 2019	Rare anaemia v0.7	HBA2	Louise Daugherty Source London South GLH was added to HBA2.
08 Feb 2019	Rare anaemia v0.7	HBA1	Louise Daugherty Source London South GLH was added to HBA1.
08 Feb 2019	Rare anaemia v0.7	ATRX	Louise Daugherty gene: ATRX was added gene: ATRX was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: ATRX was set to
08 Feb 2019	Rare anaemia v0.7	SEC23B	Louise Daugherty Source London South GLH was added to SEC23B.
08 Feb 2019	Rare anaemia v0.7	LPIN2	Louise Daugherty Source London South GLH was added to LPIN2.
08 Feb 2019	Rare anaemia v0.7	KLF1	Louise Daugherty Source London South GLH was added to KLF1.
08 Feb 2019	Rare anaemia v0.7	KIF23	Louise Daugherty Source London South GLH was added to KIF23.
08 Feb 2019	Rare anaemia v0.7	GATA1	Louise Daugherty Source London South GLH was added to GATA1.
08 Feb 2019	Rare anaemia v0.7	COX4I2	Louise Daugherty Source London South GLH was added to COX4I2.
08 Feb 2019	Rare anaemia v0.7	C15orf41	Louise Daugherty Source London South GLH was added to C15orf41.
08 Feb 2019	Rare anaemia v0.7	CDAN1	Louise Daugherty Source London South GLH was added to CDAN1.
08 Feb 2019	Rare anaemia v0.7	TPI1	Louise Daugherty Source London South GLH was added to TPI1.
08 Feb 2019	Rare anaemia v0.7	PKLR	Louise Daugherty Source London South GLH was added to PKLR.
08 Feb 2019	Rare anaemia v0.7	PGK1	Louise Daugherty gene: PGK1 was added gene: PGK1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: PGK1 was set to
08 Feb 2019	Rare anaemia v0.7	PFKM	Louise Daugherty Source London South GLH was added to PFKM.
08 Feb 2019	Rare anaemia v0.7	NT5C3A	Louise Daugherty Source London South GLH was added to NT5C3A.
08 Feb 2019	Rare anaemia v0.7	HK1	Louise Daugherty Source London South GLH was added to HK1.
08 Feb 2019	Rare anaemia v0.7	GSS	Louise Daugherty Source London South GLH was added to GSS.
08 Feb 2019	Rare anaemia v0.7	GPX1	Louise Daugherty gene: GPX1 was added gene: GPX1 was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: GPX1 was set to
08 Feb 2019	Rare anaemia v0.7	GPI	Louise Daugherty Source London South GLH was added to GPI.
08 Feb 2019	Rare anaemia v0.7	GCLC	Louise Daugherty Source London South GLH was added to GCLC.
08 Feb 2019	Rare anaemia v0.7	G6PD	Louise Daugherty Source London South GLH was added to G6PD.
08 Feb 2019	Rare anaemia v0.7	CYB5R3	Louise Daugherty Source London South GLH was added to CYB5R3.
08 Feb 2019	Rare anaemia v0.7	CYB5A	Louise Daugherty gene: CYB5A was added gene: CYB5A was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: CYB5A was set to
08 Feb 2019	Rare anaemia v0.7	ALDOA	Louise Daugherty Source London South GLH was added to ALDOA.
08 Feb 2019	Rare anaemia v0.7	XK	Louise Daugherty gene: XK was added gene: XK was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: XK was set to
08 Feb 2019	Rare anaemia v0.7	SPTB	Louise Daugherty Source London South GLH was added to SPTB.
08 Feb 2019	Rare anaemia v0.7	SPTA1	Louise Daugherty Source London South GLH was added to SPTA1.
08 Feb 2019	Rare anaemia v0.7	SLC4A1	Louise Daugherty Source London South GLH was added to SLC4A1.
08 Feb 2019	Rare anaemia v0.7	SLC2A1	Louise Daugherty Source London South GLH was added to SLC2A1.
08 Feb 2019	Rare anaemia v0.7	RHAG	Louise Daugherty Source London South GLH was added to RHAG.
08 Feb 2019	Rare anaemia v0.7	PIEZO1	Louise Daugherty Source London South GLH was added to PIEZO1.
08 Feb 2019	Rare anaemia v0.7	KCNN4	Louise Daugherty Source London South GLH was added to KCNN4.
08 Feb 2019	Rare anaemia v0.7	EPB42	Louise Daugherty Source London South GLH was added to EPB42.
08 Feb 2019	Rare anaemia v0.7	EPB41	Louise Daugherty Source London South GLH was added to EPB41.
08 Feb 2019	Rare anaemia v0.7	ANK1	Louise Daugherty Source London South GLH was added to ANK1.
08 Feb 2019	Rare anaemia v0.7	AK1	Louise Daugherty Source London South GLH was added to AK1.
06 Feb 2019	Rare anaemia v0.6	YARS2	Louise Daugherty reviewed gene: YARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TSR2	Louise Daugherty reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TRNT1	Louise Daugherty reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TPI1	Louise Daugherty reviewed gene: TPI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TMPRSS6	Louise Daugherty reviewed gene: TMPRSS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TF	Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	TCN2	Louise Daugherty reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	STEAP3	Louise Daugherty reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SPTB	Louise Daugherty reviewed gene: SPTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SPTA1	Louise Daugherty reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SLC4A1	Louise Daugherty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SLC2A1	Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SLC25A38	Louise Daugherty reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SLC19A2	Louise Daugherty reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SLC11A2	Louise Daugherty reviewed gene: SLC11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SEC23B	Louise Daugherty reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	SBDS	Louise Daugherty reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS7	Louise Daugherty reviewed gene: RPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS29	Louise Daugherty reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS28	Louise Daugherty reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS27	Louise Daugherty reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS26	Louise Daugherty reviewed gene: RPS26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS24	Louise Daugherty reviewed gene: RPS24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS19	Louise Daugherty reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS17	Louise Daugherty reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPS10	Louise Daugherty reviewed gene: RPS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL9	Louise Daugherty reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL5	Louise Daugherty reviewed gene: RPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL35A	Louise Daugherty reviewed gene: RPL35A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL31	Louise Daugherty reviewed gene: RPL31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL27	Louise Daugherty reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL26	Louise Daugherty reviewed gene: RPL26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL18	Louise Daugherty reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL15	Louise Daugherty reviewed gene: RPL15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RPL11	Louise Daugherty reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	RHAG	Louise Daugherty reviewed gene: RHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	PUS1	Louise Daugherty reviewed gene: PUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	PKLR	Louise Daugherty reviewed gene: PKLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	PIEZO1	Louise Daugherty reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	PFKM	Louise Daugherty reviewed gene: PFKM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	NT5C3A	Louise Daugherty reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	NDUFB11	Louise Daugherty reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	MTRR	Louise Daugherty reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	MTR	Louise Daugherty reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	LPIN2	Louise Daugherty reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	LARS2	Louise Daugherty reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	KLF1	Louise Daugherty reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	KIF23	Louise Daugherty reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	KCNN4	Louise Daugherty reviewed gene: KCNN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HSPA9	Louise Daugherty reviewed gene: HSPA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HK1	Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBG2	Louise Daugherty reviewed gene: HBG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBG1	Louise Daugherty reviewed gene: HBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBD	Louise Daugherty reviewed gene: HBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBB	Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBA2	Louise Daugherty reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	HBA1	Louise Daugherty reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GSS	Louise Daugherty reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GSR	Louise Daugherty reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GPI	Louise Daugherty reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GLRX5	Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GCLC	Louise Daugherty reviewed gene: GCLC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	GATA1	Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	G6PD	Louise Daugherty reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	EPB42	Louise Daugherty reviewed gene: EPB42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	EPB41	Louise Daugherty reviewed gene: EPB41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	DHFR	Louise Daugherty reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	CYB5R3	Louise Daugherty reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	CUBN	Louise Daugherty reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	COX4I2	Louise Daugherty reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	CDAN1	Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	C15orf41	Louise Daugherty reviewed gene: C15orf41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ANK1	Louise Daugherty reviewed gene: ANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	AMN	Louise Daugherty reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ALDOA	Louise Daugherty reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ALAS2	Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	AK1	Louise Daugherty reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ADA2	Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ABCG8	Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ABCG5	Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.6	ABCB7	Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	YARS2	Carl Fratter reviewed gene: YARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	TSR2	Carl Fratter reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	TRNT1	Carl Fratter reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	TPI1	Carl Fratter reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	TMPRSS6	Carl Fratter reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	TF	Carl Fratter reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	TCN2	Carl Fratter reviewed gene: TCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	STEAP3	Carl Fratter reviewed gene: STEAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	SPTB	Carl Fratter reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SPTA1	Carl Fratter reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SLC4A1	Carl Fratter reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SLC2A1	Carl Fratter reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SLC25A38	Carl Fratter reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SLC19A2	Carl Fratter reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SLC11A2	Carl Fratter reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SEC23B	Carl Fratter reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	SBDS	Carl Fratter reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS7	Carl Fratter reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS29	Carl Fratter reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS28	Carl Fratter reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	RPS27	Carl Fratter reviewed gene: RPS27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS26	Carl Fratter reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS24	Carl Fratter reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS19	Carl Fratter reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS17	Carl Fratter reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPS10	Carl Fratter reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL9	Carl Fratter reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL5	Carl Fratter reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL35A	Carl Fratter reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL31	Carl Fratter reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	RPL27	Carl Fratter reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL26	Carl Fratter reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RPL18	Carl Fratter reviewed gene: RPL18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	RPL15	Carl Fratter reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	RPL11	Carl Fratter reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	RHAG	Carl Fratter reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	PUS1	Carl Fratter reviewed gene: PUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	PKLR	Carl Fratter reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	PIEZO1	Carl Fratter reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	PFKM	Carl Fratter reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	NT5C3A	Carl Fratter reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	NDUFB11	Carl Fratter reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	MTRR	Carl Fratter reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	MTR	Carl Fratter reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	LPIN2	Carl Fratter reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	LARS2	Carl Fratter reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	KLF1	Carl Fratter reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	KIF23	Carl Fratter reviewed gene: KIF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	KCNN4	Carl Fratter reviewed gene: KCNN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	HSPA9	Carl Fratter reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	HK1	Carl Fratter reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBG2	Carl Fratter reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBG1	Carl Fratter reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBD	Carl Fratter reviewed gene: HBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBB	Carl Fratter reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBA2	Carl Fratter reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	HBA1	Carl Fratter reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GSS	Carl Fratter reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GSR	Carl Fratter reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GPI	Carl Fratter reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GLRX5	Carl Fratter reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GCLC	Carl Fratter reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	GATA1	Carl Fratter reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	G6PD	Carl Fratter reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	EPB42	Carl Fratter reviewed gene: EPB42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	EPB41	Carl Fratter reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	DHFR	Carl Fratter reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	CYB5R3	Carl Fratter reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	CUBN	Carl Fratter reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	COX4I2	Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	CDAN1	Carl Fratter reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	C15orf41	Carl Fratter reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	ANK1	Carl Fratter reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	AMN	Carl Fratter reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	ALDOA	Carl Fratter reviewed gene: ALDOA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	ALAS2	Carl Fratter reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.5	AK1	Carl Fratter reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	ADA2	Carl Fratter reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	ABCG8	Carl Fratter reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	ABCG5	Carl Fratter reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Feb 2019	Rare anaemia v0.5	ABCB7	Carl Fratter reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
06 Feb 2019	Rare anaemia v0.4	YARS2	Louise Daugherty Source NHS GMS was added to YARS2.
06 Feb 2019	Rare anaemia v0.4	TSR2	Louise Daugherty Source NHS GMS was added to TSR2.
06 Feb 2019	Rare anaemia v0.4	TRNT1	Louise Daugherty Source NHS GMS was added to TRNT1.
06 Feb 2019	Rare anaemia v0.4	TPI1	Louise Daugherty Source NHS GMS was added to TPI1.
06 Feb 2019	Rare anaemia v0.4	TMPRSS6	Louise Daugherty Source NHS GMS was added to TMPRSS6.
06 Feb 2019	Rare anaemia v0.4	TF	Louise Daugherty Source NHS GMS was added to TF.
06 Feb 2019	Rare anaemia v0.4	TCN2	Louise Daugherty Source NHS GMS was added to TCN2.
06 Feb 2019	Rare anaemia v0.4	STEAP3	Louise Daugherty Source NHS GMS was added to STEAP3.
06 Feb 2019	Rare anaemia v0.4	SPTB	Louise Daugherty Source NHS GMS was added to SPTB.
06 Feb 2019	Rare anaemia v0.4	SPTA1	Louise Daugherty Source NHS GMS was added to SPTA1.
06 Feb 2019	Rare anaemia v0.4	SLC4A1	Louise Daugherty Source NHS GMS was added to SLC4A1.
06 Feb 2019	Rare anaemia v0.4	SLC2A1	Louise Daugherty Source NHS GMS was added to SLC2A1.
06 Feb 2019	Rare anaemia v0.4	SLC25A38	Louise Daugherty Source NHS GMS was added to SLC25A38.
06 Feb 2019	Rare anaemia v0.4	SLC19A2	Louise Daugherty Source NHS GMS was added to SLC19A2.
06 Feb 2019	Rare anaemia v0.4	SLC11A2	Louise Daugherty Source NHS GMS was added to SLC11A2.
06 Feb 2019	Rare anaemia v0.4	SEC23B	Louise Daugherty Source NHS GMS was added to SEC23B.
06 Feb 2019	Rare anaemia v0.4	SBDS	Louise Daugherty Source NHS GMS was added to SBDS.
06 Feb 2019	Rare anaemia v0.4	RPS7	Louise Daugherty Source NHS GMS was added to RPS7.
06 Feb 2019	Rare anaemia v0.4	RPS29	Louise Daugherty Source NHS GMS was added to RPS29.
06 Feb 2019	Rare anaemia v0.4	RPS28	Louise Daugherty Source NHS GMS was added to RPS28.
06 Feb 2019	Rare anaemia v0.4	RPS27	Louise Daugherty Source NHS GMS was added to RPS27.
06 Feb 2019	Rare anaemia v0.4	RPS26	Louise Daugherty Source NHS GMS was added to RPS26.
06 Feb 2019	Rare anaemia v0.4	RPS24	Louise Daugherty Source NHS GMS was added to RPS24.
06 Feb 2019	Rare anaemia v0.4	RPS19	Louise Daugherty Source NHS GMS was added to RPS19.
06 Feb 2019	Rare anaemia v0.4	RPS17	Louise Daugherty Source NHS GMS was added to RPS17.
06 Feb 2019	Rare anaemia v0.4	RPS10	Louise Daugherty Source NHS GMS was added to RPS10.
06 Feb 2019	Rare anaemia v0.4	RPL9	Louise Daugherty Source NHS GMS was added to RPL9.
06 Feb 2019	Rare anaemia v0.4	RPL5	Louise Daugherty Source NHS GMS was added to RPL5.
06 Feb 2019	Rare anaemia v0.4	RPL35A	Louise Daugherty Source NHS GMS was added to RPL35A.
06 Feb 2019	Rare anaemia v0.4	RPL31	Louise Daugherty Source NHS GMS was added to RPL31.
06 Feb 2019	Rare anaemia v0.4	RPL27	Louise Daugherty Source NHS GMS was added to RPL27.
06 Feb 2019	Rare anaemia v0.4	RPL26	Louise Daugherty Source NHS GMS was added to RPL26.
06 Feb 2019	Rare anaemia v0.4	RPL18	Louise Daugherty Source NHS GMS was added to RPL18.
06 Feb 2019	Rare anaemia v0.4	RPL15	Louise Daugherty Source NHS GMS was added to RPL15.
06 Feb 2019	Rare anaemia v0.4	RPL11	Louise Daugherty Source NHS GMS was added to RPL11.
06 Feb 2019	Rare anaemia v0.4	RHAG	Louise Daugherty Source NHS GMS was added to RHAG.
06 Feb 2019	Rare anaemia v0.4	PUS1	Louise Daugherty Source NHS GMS was added to PUS1.
06 Feb 2019	Rare anaemia v0.4	PKLR	Louise Daugherty Source NHS GMS was added to PKLR.
06 Feb 2019	Rare anaemia v0.4	PIEZO1	Louise Daugherty Source NHS GMS was added to PIEZO1.
06 Feb 2019	Rare anaemia v0.4	PFKM	Louise Daugherty Source NHS GMS was added to PFKM.
06 Feb 2019	Rare anaemia v0.4	NT5C3A	Louise Daugherty Source NHS GMS was added to NT5C3A.
06 Feb 2019	Rare anaemia v0.4	NDUFB11	Louise Daugherty Source NHS GMS was added to NDUFB11.
06 Feb 2019	Rare anaemia v0.4	MTRR	Louise Daugherty Source NHS GMS was added to MTRR.
06 Feb 2019	Rare anaemia v0.4	MTR	Louise Daugherty Source NHS GMS was added to MTR.
06 Feb 2019	Rare anaemia v0.4	LPIN2	Louise Daugherty Source NHS GMS was added to LPIN2.
06 Feb 2019	Rare anaemia v0.4	LARS2	Louise Daugherty Source NHS GMS was added to LARS2.
06 Feb 2019	Rare anaemia v0.4	KLF1	Louise Daugherty Source NHS GMS was added to KLF1.
06 Feb 2019	Rare anaemia v0.4	KIF23	Louise Daugherty Source NHS GMS was added to KIF23.
06 Feb 2019	Rare anaemia v0.4	KCNN4	Louise Daugherty Source NHS GMS was added to KCNN4.
06 Feb 2019	Rare anaemia v0.4	HSPA9	Louise Daugherty Source NHS GMS was added to HSPA9.
06 Feb 2019	Rare anaemia v0.4	HK1	Louise Daugherty Source NHS GMS was added to HK1.
06 Feb 2019	Rare anaemia v0.4	HBG2	Louise Daugherty Source NHS GMS was added to HBG2.
06 Feb 2019	Rare anaemia v0.4	HBG1	Louise Daugherty Source NHS GMS was added to HBG1.
06 Feb 2019	Rare anaemia v0.4	HBD	Louise Daugherty Source NHS GMS was added to HBD.
06 Feb 2019	Rare anaemia v0.4	HBB	Louise Daugherty Source NHS GMS was added to HBB.
06 Feb 2019	Rare anaemia v0.4	HBA2	Louise Daugherty Source NHS GMS was added to HBA2.
06 Feb 2019	Rare anaemia v0.4	HBA1	Louise Daugherty Source NHS GMS was added to HBA1.
06 Feb 2019	Rare anaemia v0.4	GSS	Louise Daugherty Source NHS GMS was added to GSS.
06 Feb 2019	Rare anaemia v0.4	GSR	Louise Daugherty Source NHS GMS was added to GSR.
06 Feb 2019	Rare anaemia v0.4	GPI	Louise Daugherty Source NHS GMS was added to GPI.
06 Feb 2019	Rare anaemia v0.4	GLRX5	Louise Daugherty Source NHS GMS was added to GLRX5.
06 Feb 2019	Rare anaemia v0.4	GCLC	Louise Daugherty Source NHS GMS was added to GCLC.
06 Feb 2019	Rare anaemia v0.4	GATA1	Louise Daugherty Source NHS GMS was added to GATA1.
06 Feb 2019	Rare anaemia v0.4	G6PD	Louise Daugherty Source NHS GMS was added to G6PD.
06 Feb 2019	Rare anaemia v0.4	EPB42	Louise Daugherty Source NHS GMS was added to EPB42.
06 Feb 2019	Rare anaemia v0.4	EPB41	Louise Daugherty Source NHS GMS was added to EPB41.
06 Feb 2019	Rare anaemia v0.4	DHFR	Louise Daugherty Source NHS GMS was added to DHFR.
06 Feb 2019	Rare anaemia v0.4	CYB5R3	Louise Daugherty Source NHS GMS was added to CYB5R3.
06 Feb 2019	Rare anaemia v0.4	CUBN	Louise Daugherty Source NHS GMS was added to CUBN.
06 Feb 2019	Rare anaemia v0.4	COX4I2	Louise Daugherty Source NHS GMS was added to COX4I2.
06 Feb 2019	Rare anaemia v0.4	CDAN1	Louise Daugherty Source NHS GMS was added to CDAN1.
06 Feb 2019	Rare anaemia v0.4	C15orf41	Louise Daugherty Source NHS GMS was added to C15orf41.
06 Feb 2019	Rare anaemia v0.4	ANK1	Louise Daugherty Source NHS GMS was added to ANK1.
06 Feb 2019	Rare anaemia v0.4	AMN	Louise Daugherty Source NHS GMS was added to AMN.
06 Feb 2019	Rare anaemia v0.4	ALDOA	Louise Daugherty Source NHS GMS was added to ALDOA.
06 Feb 2019	Rare anaemia v0.4	ALAS2	Louise Daugherty Source NHS GMS was added to ALAS2.
06 Feb 2019	Rare anaemia v0.4	AK1	Louise Daugherty Source NHS GMS was added to AK1.
06 Feb 2019	Rare anaemia v0.4	ADA2	Louise Daugherty Source NHS GMS was added to ADA2.
06 Feb 2019	Rare anaemia v0.4	ABCG8	Louise Daugherty Source NHS GMS was added to ABCG8.
06 Feb 2019	Rare anaemia v0.4	ABCG5	Louise Daugherty Source NHS GMS was added to ABCG5.
06 Feb 2019	Rare anaemia v0.4	ABCB7	Louise Daugherty Source NHS GMS was added to ABCB7.
06 Feb 2019	Rare anaemia v0.3	YARS2	Louise Daugherty Source Expert Review Amber was added to YARS2. Mode of inheritance for gene YARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 24430573; 24344687; 20598274 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	TSR2	Louise Daugherty Source Expert Review Amber was added to TSR2. Mode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 Publications for gene TSR2 were changed from to 24942156; 20301769 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	TRNT1	Louise Daugherty Source Expert Review Green was added to TRNT1. Added phenotypes sideroblastic anaemia for gene: TRNT1 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	TPI1	Louise Daugherty Source Expert Review Green was added to TPI1. Mode of inheritance for gene TPI1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512; Enzyme Disorder for gene: TPI1 Publications for gene TPI1 were changed from to 10910933; 17879449; 20374271; 7485100 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	TMPRSS6	Louise Daugherty Source Expert Review Green was added to TMPRSS6. Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Iron refractoryirondeficiencyanemia,206200; Iron-Refractory Iron Deficiency Anemia for gene: TMPRSS6 Publications for gene TMPRSS6 were changed from to 18408718 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	TF	Louise Daugherty Source Expert Review Amber was added to TF. Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Atransferrinemia, 209300; Congenital hypotransferrinemia for gene: TF Publications for gene TF were changed from to 3472216; 1862777; 11110675; 8187613; 10660486 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	TCN2	Louise Daugherty Source Expert Review Amber was added to TCN2. Mode of inheritance for gene TCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes megaloblastic bone marrow; failure to thrive; pancytopenia; neutropenic colitis; thrombocytopenia; Transcobalamin II deficiency; neutropenia; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow; can have a presentation similar to severe combined immunodeficiency; Agammaglobulinemia for gene: TCN2 Publications for gene TCN2 were changed from to 7980584; 7849710; 18956254; 24305960; 20352340 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	STEAP3	Louise Daugherty Source Expert Review Amber was added to STEAP3. Added phenotypes hypochromic anaemia for gene: STEAP3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	SPTB	Louise Daugherty Source Expert Review Green was added to SPTB. Mode of inheritance for gene SPTB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB Publications for gene SPTB were changed from to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SPTA1	Louise Daugherty Source Expert Review Green was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1 Publications for gene SPTA1 were changed from to 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SLC4A1	Louise Daugherty Source Expert Review Green was added to SLC4A1. Mode of inheritance for gene SLC4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1 Publications for gene SLC4A1 were changed from to 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SLC2A1	Louise Daugherty Source Expert Review Green was added to SLC2A1. Mode of inheritance for gene SLC2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1 Publications for gene SLC2A1 were changed from to 22492876; 21791420; 15180870 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SLC25A38	Louise Daugherty Source Expert Review Green was added to SLC25A38. Mode of inheritance for gene SLC25A38 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38 Publications for gene SLC25A38 were changed from to 19412178 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SLC19A2	Louise Daugherty Source Expert Review Green was added to SLC19A2. Mode of inheritance for gene SLC19A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome, 249270 for gene: SLC19A2 Publications for gene SLC19A2 were changed from to 10391221 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SLC11A2	Louise Daugherty Source Expert Review Green was added to SLC11A2. Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2 Publications for gene SLC11A2 were changed from to 16160008; 16439678; 15459009 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SEC23B	Louise Daugherty Source Expert Review Green was added to SEC23B. Mode of inheritance for gene SEC23B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital Dyserythropoietic Anemia; Congenital dyserythropoietic anemia type II; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100 for gene: SEC23B Publications for gene SEC23B were changed from to 19561605; 19621418 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	SBDS	Louise Daugherty Source Expert Review Green was added to SBDS. Mode of inheritance for gene SBDS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Shwachman-Diamond syndrome for gene: SBDS Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS7	Louise Daugherty Source Expert Review Green was added to RPS7. Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DIAMOND-BLACKFAN ANEMIA 8; Diamond_Blackfan Anemia 8; Diamond-Blackfan anemia 8, 612563; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS7 Publications for gene RPS7 were changed from to 25946618; 23718193; 27882484; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS29	Louise Daugherty Source Expert Review Green was added to RPS29. Mode of inheritance for gene RPS29 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 13, 615909 for gene: RPS29 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS28	Louise Daugherty Source Expert Review Amber was added to RPS28. Mode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28 Publications for gene RPS28 were changed from to 24942156; 20301769 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	RPS27	Louise Daugherty Source Expert Review Green was added to RPS27. Mode of inheritance for gene RPS27 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 for gene: RPS27 Publications for gene RPS27 were changed from to 23718193; 25424902 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS26	Louise Daugherty Source Expert Review Green was added to RPS26. Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10, 613309; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS26 Publications for gene RPS26 were changed from to 24675553; 25946618; 24942156; 20116044 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS24	Louise Daugherty Source Expert Review Green was added to RPS24. Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia 3; DIAMOND-BLACKFAN ANEMIA 3; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia for gene: RPS24 Publications for gene RPS24 were changed from to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS19	Louise Daugherty Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19 Publications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS17	Louise Daugherty Source Expert Review Green was added to RPS17. Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17 Publications for gene RPS17 were changed from to 22045982; 19953637; 17647292; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPS10	Louise Daugherty Source Expert Review Green was added to RPS10. Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; DIAMOND-BLACKFAN ANEMIA 9; Diamond Blackfan anemia for gene: RPS10 Publications for gene RPS10 were changed from to 25946618; 20116044; 23718193 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL9	Louise Daugherty Source Expert Review Green was added to RPL9. Mode of inheritance for gene RPL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia for gene: RPL9 Publications for gene RPL9 were changed from to 23718193; 20116044 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL5	Louise Daugherty Source Expert Review Green was added to RPL5. Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL5 Publications for gene RPL5 were changed from to 25946618; 19191325; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL35A	Louise Daugherty Source Expert Review Green was added to RPL35A. Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia for gene: RPL35A Publications for gene RPL35A were changed from to 25946618; 18535205 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL31	Louise Daugherty Source Expert Review Green was added to RPL31. Mode of inheritance for gene RPL31 was changed from to Unknown Publications for gene RPL31 were changed from to 25424902; 25042156 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL27	Louise Daugherty Source Expert Review Green was added to RPL27. Mode of inheritance for gene RPL27 was changed from to Unknown Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408 for gene: RPL27 Publications for gene RPL27 were changed from to 25424902 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL26	Louise Daugherty Source Expert Review Green was added to RPL26. Mode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Diamond-Blackfan anemia 11, 614900 for gene: RPL26 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL18	Louise Daugherty Source Expert Review Amber was added to RPL18. Mode of inheritance for gene RPL18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anaemia for gene: RPL18 Publications for gene RPL18 were changed from to 28280134 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	RPL15	Louise Daugherty Source Expert Review Green was added to RPL15. Mode of inheritance for gene RPL15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Diamond-Blackfan anemia 12, 615550 for gene: RPL15 Publications for gene RPL15 were changed from to 23812780; 19438500 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RPL11	Louise Daugherty Source Expert Review Green was added to RPL11. Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia 7; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPL11 Publications for gene RPL11 were changed from to 19191325; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	RHAG	Louise Daugherty Source Expert Review Green was added to RHAG. Mode of inheritance for gene RHAG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG Publications for gene RHAG were changed from to 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	PUS1	Louise Daugherty Source Expert Review Amber was added to PUS1. Mode of inheritance for gene PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 for gene: PUS1 Publications for gene PUS1 were changed from to 25227147; 17056637; 15108122 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	PKLR	Louise Daugherty Source Expert Review Green was added to PKLR. Mode of inheritance for gene PKLR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR Publications for gene PKLR were changed from to 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	PIEZO1	Louise Daugherty Source Expert Review Green was added to PIEZO1. Mode of inheritance for gene PIEZO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1 Publications for gene PIEZO1 were changed from to 22529292; 23973043; 23695678; 23479567; 16898969; 23581886 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	PFKM	Louise Daugherty Source Expert Review Green was added to PFKM. Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM Publications for gene PFKM were changed from to 7479776; 7513946; 8889589 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	NT5C3A	Louise Daugherty Source Expert Review Green was added to NT5C3A. Mode of inheritance for gene NT5C3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A Publications for gene NT5C3A were changed from to 12714505; 12930399; 11369620 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	NDUFB11	Louise Daugherty Source Expert Review Amber was added to NDUFB11. Added phenotypes sideroblastic anaemia for gene: NDUFB11 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	MTRR	Louise Daugherty Source Expert Review Amber was added to MTRR. Mode of inheritance for gene MTRR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR Publications for gene MTRR were changed from to 12555939; 15714522; 9501215 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	MTR	Louise Daugherty Source Expert Review Amber was added to MTR. Mode of inheritance for gene MTR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	LPIN2	Louise Daugherty Source Expert Review Green was added to LPIN2. Mode of inheritance for gene LPIN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Majeed syndrome, 609628; CDA; Microcytic anemia; Congenital dyserythropoietic anemia for gene: LPIN2 Publications for gene LPIN2 were changed from to 11795677; 17330256; 2809904; 10969284; 23087183 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	LARS2	Louise Daugherty Source Expert Review Amber was added to LARS2. Added phenotypes hydrops/sideroblastic anaemia for gene: LARS2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	KLF1	Louise Daugherty Source Expert Review Green was added to KLF1. Mode of inheritance for gene KLF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyserythropoietic anemia, congenital, type IV, 613673; Congenital Dyserythropoietic Anemia for gene: KLF1 Publications for gene KLF1 were changed from to 21055716 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	KIF23	Louise Daugherty Source Expert Review Green was added to KIF23. Mode of inheritance for gene KIF23 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes CDA III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; Enzyme Disorder for gene: KIF23 Publications for gene KIF23 were changed from to 7711721; 7323912; 23570799 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	KCNN4	Louise Daugherty Source Expert Review Green was added to KCNN4. Mode of inheritance for gene KCNN4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hereditary Xerocytosis for gene: KCNN4 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HSPA9	Louise Daugherty Source Expert Review Green was added to HSPA9. Added phenotypes sideroblastic anaemia for gene: HSPA9 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HK1	Louise Daugherty Source Expert Review Green was added to HK1. Mode of inheritance for gene HK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to hexokinase deficiency, 235700; Enzyme Disorder for gene: HK1 Publications for gene HK1 were changed from to 12393545; 7655856 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBG2	Louise Daugherty Source Expert Review Green was added to HBG2. Mode of inheritance for gene HBG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBG1	Louise Daugherty Source Expert Review Green was added to HBG1. Mode of inheritance for gene HBG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fetal hemoglobin quantitative trait locus 1, 141749; Globin Disorder for gene: HBG1 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBD	Louise Daugherty Source Expert Review Green was added to HBD. Mode of inheritance for gene HBD was changed from to Unknown Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBB	Louise Daugherty Source Expert Review Green was added to HBB. Mode of inheritance for gene HBB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749 for gene: HBB Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBA2	Louise Daugherty Source Expert Review Green was added to HBA2. Mode of inheritance for gene HBA2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hypochromic microcytic anemia; Heinz body anemia,140700; Globin Disorder; Erythrocytosis; Thalassemia, alpha-, 604131; Hemoglobin H disease, nondeletional, 613978 for gene: HBA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	HBA1	Louise Daugherty Source Expert Review Green was added to HBA1. Mode of inheritance for gene HBA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GSS	Louise Daugherty Source Expert Review Green was added to GSS. Mode of inheritance for gene GSS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS Publications for gene GSS were changed from to 16435214; 8896573; 10450861; 11167850 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GSR	Louise Daugherty Source Expert Review Green was added to GSR. Mode of inheritance for gene GSR was changed from to Unknown Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR Publications for gene GSR were changed from to 8533822 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GPI	Louise Daugherty Source Expert Review Green was added to GPI. Mode of inheritance for gene GPI was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI Publications for gene GPI were changed from to 4076245; 9856489; 8499925; 8417789 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GLRX5	Louise Daugherty Source Expert Review Green was added to GLRX5. Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5 Publications for gene GLRX5 were changed from to 20364084; 25342667; 17485548 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GCLC	Louise Daugherty Source Expert Review Green was added to GCLC. Mode of inheritance for gene GCLC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC Publications for gene GCLC were changed from to 8634459; 10515893; 12663448; 18024385; 10733484 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	GATA1	Louise Daugherty Source Expert Review Green was added to GATA1. Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; Myelodysplastic syndrome (MDS), Paediatric for gene: GATA1 Publications for gene GATA1 were changed from to 22706301; 24952648; 24766296; 10700180; 24453067 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	G6PD	Louise Daugherty Source Expert Review Green was added to G6PD. Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD Publications for gene G6PD were changed from to 1999409 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	EPB42	Louise Daugherty Source Expert Review Green was added to EPB42. Mode of inheritance for gene EPB42 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes EPB42-related hereditary spherocytosis; Spherocytosis, Recessive; Elliptocytosis; Minkowski-Chauffard disease; RBC membrane abnormality; Hereditary spherocytosis type 5; Spherocytosis, type 5, 612690 for gene: EPB42 Publications for gene EPB42 were changed from to 15071790; 7772513; 7803799; 2386772; 1558976 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	EPB41	Louise Daugherty Source Expert Review Green was added to EPB41. Mode of inheritance for gene EPB41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Elliptocytosis; Hereditary elliptocytosis; Elliptocytosis-1,611804; RBC membrane abnormality for gene: EPB41 Publications for gene EPB41 were changed from to 1430200; 3755799; 3134067 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	DHFR	Louise Daugherty Source Expert Review Amber was added to DHFR. Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 for gene: DHFR Publications for gene DHFR were changed from to 21310277 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	CYB5R3	Louise Daugherty Source Expert Review Green was added to CYB5R3. Added phenotypes Methaemoglobinaemia for gene: CYB5R3 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	CUBN	Louise Daugherty Source Expert Review Amber was added to CUBN. Mode of inheritance for gene CUBN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia for gene: CUBN Publications for gene CUBN were changed from to 15024727 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	COX4I2	Louise Daugherty Source Expert Review Amber was added to COX4I2. Mode of inheritance for gene COX4I2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis for gene: COX4I2 Publications for gene COX4I2 were changed from to 19268275 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	CDAN1	Louise Daugherty Source Expert Review Green was added to CDAN1. Mode of inheritance for gene CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1 Publications for gene CDAN1 were changed from to 12434312 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	C15orf41	Louise Daugherty Source Expert Review Green was added to C15orf41. Mode of inheritance for gene C15orf41 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 for gene: C15orf41 Publications for gene C15orf41 were changed from to 9220189; 16643452; 23716552 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	ANK1	Louise Daugherty Source Expert Review Green was added to ANK1. Mode of inheritance for gene ANK1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes RBC membrane abnormality; Spherocytosis, type 1,182900 for gene: ANK1 Publications for gene ANK1 were changed from to 1832935; 17327413; 8640229 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	AMN	Louise Daugherty Source Expert Review Amber was added to AMN. Mode of inheritance for gene AMN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN Publications for gene AMN were changed from to 15024727 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	ALDOA	Louise Daugherty Source Expert Review Green was added to ALDOA. Mode of inheritance for gene ALDOA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aldolase A deficiency; Glycogen storage disease XII, 611881; Glycogen storage disease; Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder for gene: ALDOA Publications for gene ALDOA were changed from to 8598869; 2825199; 14615364 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	ALAS2	Louise Daugherty Source Expert Review Green was added to ALAS2. Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Anemia, sideroblastic, 1 300751 for gene: ALAS2 Publications for gene ALAS2 were changed from to 10029606 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	AK1	Louise Daugherty Source Expert Review Amber was added to AK1. Mode of inheritance for gene AK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
06 Feb 2019	Rare anaemia v0.3	ADA2	Louise Daugherty Source Expert Review Green was added to ADA2. Added phenotypes Diamond Blackfan anaemia for gene: ADA2 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	ABCG8	Louise Daugherty Source Expert Review Green was added to ABCG8. Added phenotypes sitosterolaemia for gene: ABCG8 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	ABCG5	Louise Daugherty Source Expert Review Green was added to ABCG5. Added phenotypes sitosterolaemia for gene: ABCG5 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.3	ABCB7	Louise Daugherty Source Expert Review Green was added to ABCB7. Mode of inheritance for gene ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 for gene: ABCB7 Publications for gene ABCB7 were changed from to 10196363; 11050011; 11843825; 24255920; 20408841; 22398176 Rating Changed from Red List (low evidence) to Green List (high evidence)
06 Feb 2019	Rare anaemia v0.2	YARS2	Louise Daugherty gene: YARS2 was added gene: YARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: YARS2 was set to
06 Feb 2019	Rare anaemia v0.2	TSR2	Louise Daugherty gene: TSR2 was added gene: TSR2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TSR2 was set to
06 Feb 2019	Rare anaemia v0.2	TRNT1	Louise Daugherty gene: TRNT1 was added gene: TRNT1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TRNT1 was set to
06 Feb 2019	Rare anaemia v0.2	TPI1	Louise Daugherty gene: TPI1 was added gene: TPI1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TPI1 was set to
06 Feb 2019	Rare anaemia v0.2	TMPRSS6	Louise Daugherty gene: TMPRSS6 was added gene: TMPRSS6 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TMPRSS6 was set to
06 Feb 2019	Rare anaemia v0.2	TF	Louise Daugherty gene: TF was added gene: TF was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TF was set to
06 Feb 2019	Rare anaemia v0.2	TCN2	Louise Daugherty gene: TCN2 was added gene: TCN2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TCN2 was set to
06 Feb 2019	Rare anaemia v0.2	STEAP3	Louise Daugherty gene: STEAP3 was added gene: STEAP3 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: STEAP3 was set to
06 Feb 2019	Rare anaemia v0.2	SPTB	Louise Daugherty gene: SPTB was added gene: SPTB was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SPTB was set to
06 Feb 2019	Rare anaemia v0.2	SPTA1	Louise Daugherty gene: SPTA1 was added gene: SPTA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SPTA1 was set to
06 Feb 2019	Rare anaemia v0.2	SLC4A1	Louise Daugherty gene: SLC4A1 was added gene: SLC4A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC4A1 was set to
06 Feb 2019	Rare anaemia v0.2	SLC2A1	Louise Daugherty gene: SLC2A1 was added gene: SLC2A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC2A1 was set to
06 Feb 2019	Rare anaemia v0.2	SLC25A38	Louise Daugherty gene: SLC25A38 was added gene: SLC25A38 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC25A38 was set to
06 Feb 2019	Rare anaemia v0.2	SLC19A2	Louise Daugherty gene: SLC19A2 was added gene: SLC19A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC19A2 was set to
06 Feb 2019	Rare anaemia v0.2	SLC11A2	Louise Daugherty gene: SLC11A2 was added gene: SLC11A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC11A2 was set to
06 Feb 2019	Rare anaemia v0.2	SEC23B	Louise Daugherty gene: SEC23B was added gene: SEC23B was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SEC23B was set to
06 Feb 2019	Rare anaemia v0.2	SBDS	Louise Daugherty gene: SBDS was added gene: SBDS was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SBDS was set to
06 Feb 2019	Rare anaemia v0.2	RPS7	Louise Daugherty gene: RPS7 was added gene: RPS7 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS7 was set to
06 Feb 2019	Rare anaemia v0.2	RPS29	Louise Daugherty gene: RPS29 was added gene: RPS29 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS29 was set to
06 Feb 2019	Rare anaemia v0.2	RPS28	Louise Daugherty gene: RPS28 was added gene: RPS28 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS28 was set to
06 Feb 2019	Rare anaemia v0.2	RPS27	Louise Daugherty gene: RPS27 was added gene: RPS27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS27 was set to
06 Feb 2019	Rare anaemia v0.2	RPS26	Louise Daugherty gene: RPS26 was added gene: RPS26 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS26 was set to
06 Feb 2019	Rare anaemia v0.2	RPS24	Louise Daugherty gene: RPS24 was added gene: RPS24 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS24 was set to
06 Feb 2019	Rare anaemia v0.2	RPS19	Louise Daugherty gene: RPS19 was added gene: RPS19 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS19 was set to
06 Feb 2019	Rare anaemia v0.2	RPS17	Louise Daugherty gene: RPS17 was added gene: RPS17 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS17 was set to
06 Feb 2019	Rare anaemia v0.2	RPS10	Louise Daugherty gene: RPS10 was added gene: RPS10 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS10 was set to
06 Feb 2019	Rare anaemia v0.2	RPL9	Louise Daugherty gene: RPL9 was added gene: RPL9 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL9 was set to
06 Feb 2019	Rare anaemia v0.2	RPL5	Louise Daugherty gene: RPL5 was added gene: RPL5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL5 was set to
06 Feb 2019	Rare anaemia v0.2	RPL35A	Louise Daugherty gene: RPL35A was added gene: RPL35A was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL35A was set to
06 Feb 2019	Rare anaemia v0.2	RPL31	Louise Daugherty gene: RPL31 was added gene: RPL31 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL31 was set to
06 Feb 2019	Rare anaemia v0.2	RPL27	Louise Daugherty gene: RPL27 was added gene: RPL27 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL27 was set to
06 Feb 2019	Rare anaemia v0.2	RPL26	Louise Daugherty gene: RPL26 was added gene: RPL26 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL26 was set to
06 Feb 2019	Rare anaemia v0.2	RPL18	Louise Daugherty gene: RPL18 was added gene: RPL18 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL18 was set to
06 Feb 2019	Rare anaemia v0.2	RPL15	Louise Daugherty gene: RPL15 was added gene: RPL15 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL15 was set to
06 Feb 2019	Rare anaemia v0.2	RPL11	Louise Daugherty gene: RPL11 was added gene: RPL11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL11 was set to
06 Feb 2019	Rare anaemia v0.2	RHAG	Louise Daugherty gene: RHAG was added gene: RHAG was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RHAG was set to
06 Feb 2019	Rare anaemia v0.2	PUS1	Louise Daugherty gene: PUS1 was added gene: PUS1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PUS1 was set to
06 Feb 2019	Rare anaemia v0.2	PKLR	Louise Daugherty gene: PKLR was added gene: PKLR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PKLR was set to
06 Feb 2019	Rare anaemia v0.2	PIEZO1	Louise Daugherty gene: PIEZO1 was added gene: PIEZO1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PIEZO1 was set to
06 Feb 2019	Rare anaemia v0.2	PFKM	Louise Daugherty gene: PFKM was added gene: PFKM was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PFKM was set to
06 Feb 2019	Rare anaemia v0.2	NT5C3A	Louise Daugherty gene: NT5C3A was added gene: NT5C3A was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NT5C3A was set to
06 Feb 2019	Rare anaemia v0.2	NDUFB11	Louise Daugherty gene: NDUFB11 was added gene: NDUFB11 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: NDUFB11 was set to
06 Feb 2019	Rare anaemia v0.2	MTRR	Louise Daugherty gene: MTRR was added gene: MTRR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MTRR was set to
06 Feb 2019	Rare anaemia v0.2	MTR	Louise Daugherty gene: MTR was added gene: MTR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MTR was set to
06 Feb 2019	Rare anaemia v0.2	LPIN2	Louise Daugherty gene: LPIN2 was added gene: LPIN2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LPIN2 was set to
06 Feb 2019	Rare anaemia v0.2	LARS2	Louise Daugherty gene: LARS2 was added gene: LARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LARS2 was set to
06 Feb 2019	Rare anaemia v0.2	KLF1	Louise Daugherty gene: KLF1 was added gene: KLF1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KLF1 was set to
06 Feb 2019	Rare anaemia v0.2	KIF23	Louise Daugherty gene: KIF23 was added gene: KIF23 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KIF23 was set to
06 Feb 2019	Rare anaemia v0.2	KCNN4	Louise Daugherty gene: KCNN4 was added gene: KCNN4 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KCNN4 was set to
06 Feb 2019	Rare anaemia v0.2	HSPA9	Louise Daugherty gene: HSPA9 was added gene: HSPA9 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HSPA9 was set to
06 Feb 2019	Rare anaemia v0.2	HK1	Louise Daugherty gene: HK1 was added gene: HK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HK1 was set to
06 Feb 2019	Rare anaemia v0.2	HBG2	Louise Daugherty gene: HBG2 was added gene: HBG2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBG2 was set to
06 Feb 2019	Rare anaemia v0.2	HBG1	Louise Daugherty gene: HBG1 was added gene: HBG1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBG1 was set to
06 Feb 2019	Rare anaemia v0.2	HBD	Louise Daugherty gene: HBD was added gene: HBD was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBD was set to
06 Feb 2019	Rare anaemia v0.2	HBB	Louise Daugherty gene: HBB was added gene: HBB was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBB was set to
06 Feb 2019	Rare anaemia v0.2	HBA2	Louise Daugherty gene: HBA2 was added gene: HBA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBA2 was set to
06 Feb 2019	Rare anaemia v0.2	HBA1	Louise Daugherty gene: HBA1 was added gene: HBA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBA1 was set to
06 Feb 2019	Rare anaemia v0.2	GSS	Louise Daugherty gene: GSS was added gene: GSS was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GSS was set to
06 Feb 2019	Rare anaemia v0.2	GSR	Louise Daugherty gene: GSR was added gene: GSR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GSR was set to
06 Feb 2019	Rare anaemia v0.2	GPI	Louise Daugherty gene: GPI was added gene: GPI was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GPI was set to
06 Feb 2019	Rare anaemia v0.2	GLRX5	Louise Daugherty gene: GLRX5 was added gene: GLRX5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLRX5 was set to
06 Feb 2019	Rare anaemia v0.2	GCLC	Louise Daugherty gene: GCLC was added gene: GCLC was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GCLC was set to
06 Feb 2019	Rare anaemia v0.2	GATA1	Louise Daugherty gene: GATA1 was added gene: GATA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GATA1 was set to
06 Feb 2019	Rare anaemia v0.2	G6PD	Louise Daugherty gene: G6PD was added gene: G6PD was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: G6PD was set to
06 Feb 2019	Rare anaemia v0.2	EPB42	Louise Daugherty gene: EPB42 was added gene: EPB42 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EPB42 was set to
06 Feb 2019	Rare anaemia v0.2	EPB41	Louise Daugherty gene: EPB41 was added gene: EPB41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: EPB41 was set to
06 Feb 2019	Rare anaemia v0.2	DHFR	Louise Daugherty gene: DHFR was added gene: DHFR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DHFR was set to
06 Feb 2019	Rare anaemia v0.2	CYB5R3	Louise Daugherty gene: CYB5R3 was added gene: CYB5R3 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CYB5R3 was set to
06 Feb 2019	Rare anaemia v0.2	CUBN	Louise Daugherty gene: CUBN was added gene: CUBN was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CUBN was set to
06 Feb 2019	Rare anaemia v0.2	COX4I2	Louise Daugherty gene: COX4I2 was added gene: COX4I2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COX4I2 was set to
06 Feb 2019	Rare anaemia v0.2	CDAN1	Louise Daugherty gene: CDAN1 was added gene: CDAN1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CDAN1 was set to
06 Feb 2019	Rare anaemia v0.2	C15orf41	Louise Daugherty gene: C15orf41 was added gene: C15orf41 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: C15orf41 was set to
06 Feb 2019	Rare anaemia v0.2	ANK1	Louise Daugherty gene: ANK1 was added gene: ANK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ANK1 was set to
06 Feb 2019	Rare anaemia v0.2	AMN	Louise Daugherty gene: AMN was added gene: AMN was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: AMN was set to
06 Feb 2019	Rare anaemia v0.2	ALDOA	Louise Daugherty gene: ALDOA was added gene: ALDOA was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ALDOA was set to
06 Feb 2019	Rare anaemia v0.2	ALAS2	Louise Daugherty gene: ALAS2 was added gene: ALAS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ALAS2 was set to
06 Feb 2019	Rare anaemia v0.2	AK1	Louise Daugherty gene: AK1 was added gene: AK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: AK1 was set to
06 Feb 2019	Rare anaemia v0.2	ADA2	Louise Daugherty gene: ADA2 was added gene: ADA2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADA2 was set to
06 Feb 2019	Rare anaemia v0.2	ABCG8	Louise Daugherty gene: ABCG8 was added gene: ABCG8 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ABCG8 was set to
06 Feb 2019	Rare anaemia v0.2	ABCG5	Louise Daugherty gene: ABCG5 was added gene: ABCG5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ABCG5 was set to
06 Feb 2019	Rare anaemia v0.2	ABCB7	Louise Daugherty gene: ABCB7 was added gene: ABCB7 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ABCB7 was set to
16 Nov 2018	Rare anaemia v0.0		Ellen McDonagh Added Panel Rare anaemia Set panel types to: GMS Rare Disease