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Cytopenias and congenital anaemias v1.118 CYCS Arina Puzriakova Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Cytopenias and congenital anaemias v1.117 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751 to Anemia, sideroblastic, 1, OMIM:300751
Cytopenias and congenital anaemias v1.116 PDGFRA Arina Puzriakova Phenotypes for gene: PDGFRA were changed from Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 to Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685
Cytopenias and congenital anaemias v1.115 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200 to Pyruvate kinase deficiency, OMIM:266200
Cytopenias and congenital anaemias v1.114 HBG2 Arina Puzriakova Phenotypes for gene: HBG2 were changed from Globin Disorder; Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Cyanosis, transient neonatal, OMIM:613977; Globin Disorder
Cytopenias and congenital anaemias v1.113 HBG1 Arina Puzriakova Phenotypes for gene: HBG1 were changed from Globin Disorder; Fetal hemoglobin quantitative trait locus 1, 141749 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Hereditary persistance of fetal haemoglobin; Globin Disorder
Cytopenias and congenital anaemias v1.112 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from Congenital dyserythropoietic anemia type II; Congenital Dyserythropoietic Anemia; Anemia, dyserythropoieticcongenital, type II, 224100; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Cytopenias and congenital anaemias v1.111 RAD51 Øystein Holla gene: RAD51 was added
gene: RAD51 was added to Cytopenias and congenital anaemias. Sources: Literature
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD51 were set to 26681308; 30907510; 26253028
Phenotypes for gene: RAD51 were set to Fanconi anemia, atypical
Penetrance for gene: RAD51 were set to unknown
Review for gene: RAD51 was set to GREEN
Added comment: Three cases published, all with de novo variants and atypical Fanconi phenotype. Dominant negative effect. RAD51 haploinsufficiency cause mirror movements.
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature; to: Only one compound heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla changed review comment from: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929)
Sources: Literature; to: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929).
Sources: Literature
Cytopenias and congenital anaemias v1.111 RFWD3 Øystein Holla gene: RFWD3 was added
gene: RFWD3 was added to Cytopenias and congenital anaemias. Sources: Literature
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia
Penetrance for gene: RFWD3 were set to unknown
Review for gene: RFWD3 was set to RED
Added comment: Only one compund heterozygote published, c.205_206dupCC; p.L69Pfs*12) and c.1916T>A; p.I639K. (PMID:28691929)
Sources: Literature
Cytopenias and congenital anaemias v1.111 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from Aplastic Anemia; Coronary artery disease; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD)
Cytopenias and congenital anaemias v1.110 HK1 Arina Puzriakova Phenotypes for gene: HK1 were changed from Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700 to Hemolytic anemia due to hexokinase deficiency, OMIM:235700
Cytopenias and congenital anaemias v1.109 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Globin Disorder; Erythrocytosis; Heinz body anemia,140700; Hemoglobin H disease, nondeletional, 613978; Hypochromic microcytic anemia; Thalassemia, alpha-, 60413 to Erythrocytosis 7, OMIM:617981; Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
Cytopenias and congenital anaemias v1.108 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Globin Disorder; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Methemoglobinemias, alpha-; 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
Cytopenias and congenital anaemias v1.107 RHAG Arina Puzriakova Phenotypes for gene: RHAG were changed from Stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150 to Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR); Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)
Cytopenias and congenital anaemias v1.106 TAZ Arina Puzriakova commented on gene: TAZ
Cytopenias and congenital anaemias v1.106 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Cytopenias and congenital anaemias v1.106 MPL Arina Puzriakova Phenotypes for gene: MPL were changed from Inherited Bone Marrow Failure Syndromes - Thrombocytopenia; Congenital amegkaryocytic thrombocytopenia; Congenital Amegakaryocytic Thrombocytopenia; Amegakaryocytic Thrombocytopenia, Congenital; Thrombocytopenia, congenital amegakaryocytic, 604498 to Thrombocytopenia, congenital amegakaryocytic, OMIM:604498
Cytopenias and congenital anaemias v1.105 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
Cytopenias and congenital anaemias v1.104 HBB Arina Puzriakova Phenotypes for gene: HBB were changed from 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 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
Cytopenias and congenital anaemias v1.103 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J 609054 to Fanconi anemia, complementation group J, OMIM:609054
Cytopenias and congenital anaemias v1.102 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1 605724 to Fanconi anemia, complementation group D1, OMIM:605724
Cytopenias and congenital anaemias v1.101 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Fanconi anemia to Fanconi anemia, complementation group S, OMIM:617883
Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was 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.
Cytopenias and congenital anaemias v1.100 KLF1 Arina Puzriakova 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
Cytopenias and congenital anaemias v1.99 KLF1 Arina Puzriakova Publications for gene: KLF1 were set to 21055716
Cytopenias and congenital anaemias v1.98 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673 to Dyserythropoietic anemia, congenital, type IV, OMIM:613673
Cytopenias and congenital anaemias v1.97 KIT Arina Puzriakova Phenotypes for gene: KIT were changed from Acute myeloid leukaemia (AML) to Leukemia, acute myeloid, somatic, OMIM:601626
Cytopenias and congenital anaemias v1.96 ADA2 Arina Puzriakova Phenotypes for gene: ADA2 were changed from Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Diamond-Blackfan Anemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia
Cytopenias and congenital anaemias v1.95 ADA2 Arina Puzriakova Phenotypes for gene: ADA2 were changed from DBA; Diamond-Blackfan Anemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Diamond-Blackfan Anemia
Cytopenias and congenital anaemias v1.94 LPIN2 Arina Puzriakova Phenotypes for gene: LPIN2 were changed from Microcytic anemia; Congenital dyserythropoietic anemia; CDA; Majeed syndrome, 609628 to Majeed syndrome, OMIM:609628; Microcytic anemia; Congenital dyserythropoietic anemia
Cytopenias and congenital anaemias v1.93 PIEZO1 Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Stomatocytosis; Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Hereditary xerocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Hereditary xerocytosis
Cytopenias and congenital anaemias v1.92 POLR2C Ivone Leong Phenotypes for gene: POLR2C were changed from thrombocytopenia, to thrombocytopenia, MONDO:0002049
Cytopenias and congenital anaemias v1.91 POLR2C Ivone Leong Phenotypes for gene: POLR2C were changed from thrombocytopenia, to thrombocytopenia,
Cytopenias and congenital anaemias v1.91 POLR2C Ivone Leong Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to thrombocytopenia,
Cytopenias and congenital anaemias v1.90 POLR2C Ivone Leong Classified gene: POLR2C as Red List (low evidence)
Cytopenias and congenital anaemias v1.90 POLR2C Ivone Leong Gene: polr2c has been classified as Red List (Low Evidence).
Cytopenias and congenital anaemias v1.89 POLR2C Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5).; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5). The entries in ClinVar did not mention any other phenotype. So therefore this gene has been given a Red rating.
Cytopenias and congenital anaemias v1.89 POLR2C Ivone Leong Tag watchlist was removed from gene: POLR2C.
Cytopenias and congenital anaemias v1.89 POLR2C Ivone Leong Entity copied from Primary ovarian insufficiency v1.62
Cytopenias and congenital anaemias v1.89 POLR2C Ivone Leong gene: POLR2C was added
gene: POLR2C was added to Cytopenias and congenital anaemias. Sources: Literature,Expert Review Amber
watchlist tags were added to gene: POLR2C.
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Cytopenias and congenital anaemias v1.88 RPS27 Arina Puzriakova Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 to ?Diamond-Blackfan anemia 17, OMIM:617409
Cytopenias and congenital anaemias v1.87 XK Ivone Leong Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842 to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
Cytopenias and congenital anaemias v1.86 ABCB7 Ivone Leong Added comment: Comment on mode of inheritance: MOI 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)" as some carrier females have ring sideroblasts, dimorphic peripheral bloode smear, hypochromic and microcytic erythrocytes but no evidence of ataxia.
Cytopenias and congenital anaemias v1.86 ABCB7 Ivone Leong 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)
Cytopenias and congenital anaemias v1.85 ABCB7 Ivone Leong Added comment: Comment on phenotypes: Previously:
Sideroblastic Anemia and Ataxia
Cytopenias and congenital anaemias v1.85 ABCB7 Ivone Leong Phenotypes for gene: ABCB7 were changed from Sideroblastic Anemia and Ataxia; Anemia, sideroblastic, with ataxia, 301310 to Anemia, sideroblastic, with ataxia, OMIM:301310
Cytopenias and congenital anaemias v1.84 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenias and congenital anaemias v1.83 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from 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
Cytopenias and congenital anaemias v1.82 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 12434312
Cytopenias and congenital anaemias v1.81 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Cytopenias and congenital anaemias v1.80 RAP1B Ivone Leong Classified gene: RAP1B as Amber List (moderate evidence)
Cytopenias and congenital anaemias v1.80 RAP1B Ivone Leong Gene: rap1b has been classified as Amber List (Moderate Evidence).
Cytopenias and congenital anaemias v1.79 RAP1B Ivone Leong gene: RAP1B was added
gene: RAP1B was added to Cytopenias and congenital anaemias. Sources: Literature
watchlist tags were added to gene: RAP1B.
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; cytopenia
Review for gene: RAP1B was set to AMBER
Added comment: This gene is associated with a phenotype in Gene2Phenotype but not OMIM.

PMID: 32627184 describes 2 patients.
36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.
13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.

PMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.

All 3 cases seem to have a very wide spectrum of differing phenotypes and therefore, this gene has been given an Amber rating until further evidence is available.
Sources: Literature
Cytopenias and congenital anaemias v1.78 TINF2 Arina Puzriakova Phenotypes for gene: TINF2 were changed from Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Revesz Syndrome; Dyskeratosis congenita; Dyskeratosis Congenita, Dominant; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 to Revesz syndrome 268130; Dyskeratosis congenita, autosomal dominant 3 613990
Cytopenias and congenital anaemias v1.77 NHP2 Arina Puzriakova Classified gene: NHP2 as Green List (high evidence)
Cytopenias and congenital anaemias v1.77 NHP2 Arina Puzriakova Added comment: Comment on list classification: With addition of the recent paper (PMID:31985013), there are now a total of 3 unrelated cases with dyskeratosis congenita due to biallelic variants in NHP2, as well as supportive in vitro data.

Cases now reach threshold for inclusion and therefore, the rating for NHP2 has been promoted from Amber to Green.
Cytopenias and congenital anaemias v1.77 NHP2 Arina Puzriakova Gene: nhp2 has been classified as Green List (High Evidence).
Cytopenias and congenital anaemias v1.76 NHP2 Arina Puzriakova reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, 613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias v1.76 NHP2 Arina Puzriakova Phenotypes for gene: NHP2 were changed from Dyskeratosis congenita, autosomal recessive 2 613987 to Dyskeratosis congenita, autosomal recessive 2, 613987
Cytopenias and congenital anaemias v1.75 NHP2 Arina Puzriakova Publications for gene: NHP2 were set to 18523010
Cytopenias and congenital anaemias v1.74 NPM1 Arina Puzriakova Classified gene: NPM1 as Amber List (moderate evidence)
Cytopenias and congenital anaemias v1.74 NPM1 Arina Puzriakova Added comment: Comment on list classification: Rated Amber as additional cases required to corroborate causality and better define the phenotype. Both variants currently classified VUS - no information regarding segregation or zygosity.
Cytopenias and congenital anaemias v1.74 NPM1 Arina Puzriakova Gene: npm1 has been classified as Amber List (Moderate Evidence).
Cytopenias and congenital anaemias v1.73 NPM1 Arina Puzriakova reviewed gene: NPM1: Rating: ; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: Dyskeratosis congenita; Mode of inheritance: Unknown
Cytopenias and congenital anaemias v1.73 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
Cytopenias and congenital anaemias v1.73 NPM1 Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31570891; Phenotypes: radial ray defects, short stature, nail dsytrophy, bone marrow failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenias and congenital anaemias v1.73 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
Cytopenias and congenital anaemias v1.73 C15orf41 Catherine Snow Tag new-gene-name tag was added to gene: C15orf41.
Cytopenias and congenital anaemias v1.73 C15orf41 Catherine Snow commented on gene: C15orf41
Cytopenias and congenital anaemias v1.73 XK Louise Daugherty Classified gene: XK as Green List (high evidence)
Cytopenias and congenital anaemias v1.73 XK Louise Daugherty Gene: xk has been classified as Green List (High Evidence).
Cytopenias and congenital anaemias v1.72 XK Louise Daugherty 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, 300842
Cytopenias and congenital anaemias v1.71 XK Rachel Jones gene: XK was added
gene: XK was added to Cytopenias and congenital anaemias. Sources: Literature
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: XK were set to 11761473; 11761473
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease OMIM 300842
Penetrance for gene: XK were set to Incomplete
Review for gene: XK was set to GREEN
gene: XK was marked as current diagnostic
Added comment: Several publications including those given above regarding this well characterised link between XK gene and McLeod syndrome in many patients. Phenotype is acanthosis, haemolysis and elevated CK. Neurological phenotype (from OMIM) "Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy"

Testing not currently offered by UK labs but several accredited European laboratories are offering testing
Sources: Literature
Cytopenias and congenital anaemias v1.71 ADA2 Louise Daugherty commented on gene: ADA2: changed MOI due to updating panels for GMS
Cytopenias and congenital anaemias v1.71 ADA2 Louise Daugherty Mode of inheritance for gene: ADA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias v1.70 RUNX1 Louise Daugherty Tag somatic-germline was removed from gene: RUNX1.
Tag somatic tag was added to gene: RUNX1.
Cytopenias and congenital anaemias v1.70 PIGT Louise Daugherty Tag somatic-germline was removed from gene: PIGT.
Tag somatic tag was added to gene: PIGT.
Cytopenias and congenital anaemias v1.70 PIGT Louise Daugherty Publications for gene: PIGT were set to
Cytopenias and congenital anaemias v1.69 MPL Louise Daugherty Tag somatic-germline was removed from gene: MPL.
Tag somatic tag was added to gene: MPL.
Cytopenias and congenital anaemias v1.69 IKZF1 Louise Daugherty Tag somatic-germline was removed from gene: IKZF1.
Tag somatic tag was added to gene: IKZF1.
Cytopenias and congenital anaemias v1.69 GATA2 Louise Daugherty Tag somatic-germline was removed from gene: GATA2.
Tag somatic tag was added to gene: GATA2.
Cytopenias and congenital anaemias v1.69 CEBPA Louise Daugherty Tag somatic-germline was removed from gene: CEBPA.
Tag somatic tag was added to gene: CEBPA.
Cytopenias and congenital anaemias v1.69 SLC46A1 Julia Baptista gene: SLC46A1 was added
gene: SLC46A1 was added to Cytopenias and congenital anaemias. Sources: Expert Review,Literature
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to PMID: 21333572; 17446347; 29390264; 11804211; 17641272
Phenotypes for gene: SLC46A1 were set to Folate malabsorption; anemia; pancytopenia
Review for gene: SLC46A1 was set to GREEN
Added comment: Hereditary folate malabsorption is an autosomal recessive disorder, shown to be due to loss-of-function mutations of the proton-coupled folate transporter (SLC46A1). Affected individuals present with early onset macrocytic anemia, thrombocytopenia, neutropenia, leukopenianand/or pancytopenia.
Sources: Expert Review, Literature
Cytopenias and congenital anaemias v1.69 Ellen McDonagh List of related panels changed from Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias; Cytopenia and pancytopenia
Cytopenias and congenital anaemias v1.68 Ellen McDonagh Panel name changed from Cytopaenias and congenital anaemias to Cytopenias and congenital anaemias
List of related panels changed from Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias
Cytopenias and congenital anaemias v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: GREEN
Cytopenias and congenital anaemias v1.67 ADA2 Louise Daugherty Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Classified gene: ADA2 as Green List (high evidence)
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Added comment: Comment on list classification: Due to new publication there is now enough evidence o rate this gene green
Cytopenias and congenital anaemias v1.66 ADA2 Louise Daugherty Gene: ada2 has been classified as Green List (High Evidence).
Cytopenias and congenital anaemias ADA2 Louise Daugherty edited their review of gene: ADA2
Cytopenias and congenital anaemias ADA2 Louise Daugherty classified ADA2 as Red List (low evidence)
Cytopenias and congenital anaemias ADA2 Louise Daugherty commented on gene: ADA2
Cytopenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Cytopenias and congenital anaemias EPO Louise Daugherty classified EPO as Red List (low evidence)
Cytopenias and congenital anaemias EPO Mary Alikian Added gene to panel
Cytopenias and congenital anaemias ADA2 Mary Alikian Added gene to panel
Cytopenias and congenital anaemias ERCC6L2 Louise Daugherty classified ERCC6L2 as Green List (high evidence)
Cytopenias and congenital anaemias ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2
Cytopenias and congenital anaemias DNAJC21 Louise Daugherty classified DNAJC21 as Green List (high evidence)
Cytopenias and congenital anaemias WIPF1 Louise Daugherty classified WIPF1 as Green List (high evidence)
Cytopenias and congenital anaemias WIPF1 Louise Daugherty commented on gene: WIPF1
Cytopenias and congenital anaemias WIPF1 Louise Daugherty edited their review of gene: WIPF1
Cytopenias and congenital anaemias WAS Ellen McDonagh commented on WAS
Cytopenias and congenital anaemias HBB Ellen McDonagh commented on HBB
Cytopenias and congenital anaemias RAD51C Louise Daugherty commented on RAD51C
Cytopenias and congenital anaemias HFE2 Louise Daugherty commented on HFE2
Cytopenias and congenital anaemias FANCM Ellen McDonagh commented on FANCM
Cytopenias and congenital anaemias LAT Rebecca Foulger classified LAT as amber
Cytopenias and congenital anaemias LAT Rebecca Foulger added LAT to panel
Cytopenias and congenital anaemias LAT Rebecca Foulger reviewed LAT
Cytopenias and congenital anaemias DNAJC21 Olivia Niblock added DNAJC21 to panel
Cytopenias and congenital anaemias DNAJC21 Olivia Niblock reviewed DNAJC21
Cytopenias and congenital anaemias MASTL Sarah Leigh reviewed MASTL
Cytopenias and congenital anaemias RPL31 Sarah Leigh classified RPL31 as red
Cytopenias and congenital anaemias RPL13 Sarah Leigh marked RPL13 as ready
Cytopenias and congenital anaemias RPL13 Sarah Leigh commented on RPL13
Cytopenias and congenital anaemias RPL13 Sarah Leigh classified RPL13 as red
Cytopenias and congenital anaemias SAMD9 Helen Brittain marked SAMD9 as ready
Cytopenias and congenital anaemias SAMD9 Helen Brittain classified SAMD9 as green
Cytopenias and congenital anaemias SAMD9 Helen Brittain added SAMD9 to panel
Cytopenias and congenital anaemias SAMD9 Helen Brittain reviewed SAMD9
Cytopenias and congenital anaemias USP18 Rebecca Foulger commented on USP18
Cytopenias and congenital anaemias USP18 Rebecca Foulger classified USP18 as red
Cytopenias and congenital anaemias USP18 Rebecca Foulger added USP18 to panel
Cytopenias and congenital anaemias USP18 Rebecca Foulger reviewed USP18
Cytopenias and congenital anaemias RPL18 Sarah Leigh added RPL18 to panel
Cytopenias and congenital anaemias RPL18 Sarah Leigh reviewed RPL18
Cytopenias and congenital anaemias RPL35 Sarah Leigh added RPL35 to panel
Cytopenias and congenital anaemias RPL35 Sarah Leigh reviewed RPL35
Cytopenias and congenital anaemias SAMD9L Sarah Leigh commented on SAMD9L
Cytopenias and congenital anaemias SAMD9L Sarah Leigh classified SAMD9L as green
Cytopenias and congenital anaemias SAMD9L Sarah Leigh added SAMD9L to panel
Cytopenias and congenital anaemias SAMD9L Sarah Leigh reviewed SAMD9L
Cytopenias and congenital anaemias C6orf25 Sarah Leigh added C6orf25 to panel
Cytopenias and congenital anaemias C6orf25 Sarah Leigh reviewed C6orf25
Cytopenias and congenital anaemias RPS27 Rebecca Foulger commented on RPS27
Cytopenias and congenital anaemias RPL27 Rebecca Foulger commented on RPL27
Cytopenias and congenital anaemias RPL13 Mary Alikian added RPL13 to panel
Cytopenias and congenital anaemias RPL13 Mary Alikian reviewed RPL13
Cytopenias and congenital anaemias RPL31 Mary Alikian added RPL31 to panel
Cytopenias and congenital anaemias RPL31 Mary Alikian reviewed RPL31
Cytopenias and congenital anaemias HBA1 Ellen McDonagh commented on HBA1
Cytopenias and congenital anaemias UROS Sarah Leigh commented on UROS
Cytopenias and congenital anaemias UROS Sarah Leigh classified UROS as green
Cytopenias and congenital anaemias UROS Sarah Leigh added UROS to panel
Cytopenias and congenital anaemias UROS Sarah Leigh reviewed UROS
Cytopenias and congenital anaemias RPS28 Louise Daugherty added RPS28 to panel
Cytopenias and congenital anaemias RPS28 Louise Daugherty reviewed RPS28
Cytopenias and congenital anaemias TSR2 Louise Daugherty added TSR2 to panel
Cytopenias and congenital anaemias TSR2 Louise Daugherty reviewed TSR2
Cytopenias and congenital anaemias GATA1 Louise Daugherty commented on GATA1
Cytopenias and congenital anaemias GCLC Louise Daugherty classified GCLC as green
Cytopenias and congenital anaemias GCLC Louise Daugherty edited their review of GCLC
Cytopenias and congenital anaemias GCLC Louise Daugherty reviewed GCLC
Cytopenias and congenital anaemias Arianna Tucci promoted panel to version 1
Cytopenias and congenital anaemias HBA1 Arianna Tucci marked HBA1 as ready
Cytopenias and congenital anaemias HBD Arianna Tucci commented on HBD
Cytopenias and congenital anaemias HBD Arianna Tucci reviewed HBD
Cytopenias and congenital anaemias HBG2 Arianna Tucci marked HBG2 as ready
Cytopenias and congenital anaemias HBG2 Arianna Tucci commented on HBG2
Cytopenias and congenital anaemias HBG2 Arianna Tucci classified HBG2 as red
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci edited their review of HBG1
Cytopenias and congenital anaemias HBG1 Arianna Tucci classified HBG1 as red
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci marked HBG1 as ready
Cytopenias and congenital anaemias HBG1 Arianna Tucci classified HBG1 as green
Cytopenias and congenital anaemias HBG1 Arianna Tucci reviewed HBG1
Cytopenias and congenital anaemias HBB Arianna Tucci marked HBB as ready
Cytopenias and congenital anaemias HBB Arianna Tucci classified HBB as green
Cytopenias and congenital anaemias HBA2 Arianna Tucci marked HBA2 as ready
Cytopenias and congenital anaemias HBA2 Arianna Tucci marked HBA2 as ready
Cytopenias and congenital anaemias HBA2 Arianna Tucci classified HBA2 as green
Cytopenias and congenital anaemias HBB Arianna Tucci reviewed HBB
Cytopenias and congenital anaemias HBA2 Arianna Tucci edited their review of HBA2
Cytopenias and congenital anaemias HBA2 Arianna Tucci reviewed HBA2
Cytopenias and congenital anaemias HBA1 Arianna Tucci reviewed HBA1
Cytopenias and congenital anaemias HBA1 Arianna Tucci commented on HBA1
Cytopenias and congenital anaemias HBA1 Arianna Tucci classified HBA1 as green
Cytopenias and congenital anaemias BRCA1 Helen Brittain marked BRCA1 as ready
Cytopenias and congenital anaemias BRCA1 Helen Brittain commented on BRCA1
Cytopenias and congenital anaemias TERT Arianna Tucci marked TERT as ready
Cytopenias and congenital anaemias TERT Arianna Tucci commented on TERT
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci marked TCN2 as ready
Cytopenias and congenital anaemias TCN2 Arianna Tucci commented on TCN2
Cytopenias and congenital anaemias TAZ Arianna Tucci marked TAZ as ready
Cytopenias and congenital anaemias TAZ Arianna Tucci commented on TAZ
Cytopenias and congenital anaemias RMRP Arianna Tucci marked RMRP as ready
Cytopenias and congenital anaemias RMRP Arianna Tucci commented on RMRP
Cytopenias and congenital anaemias NBN Arianna Tucci marked NBN as ready
Cytopenias and congenital anaemias MPL Arianna Tucci marked MPL as ready
Cytopenias and congenital anaemias MPL Arianna Tucci commented on MPL
Cytopenias and congenital anaemias GFI1 Arianna Tucci marked GFI1 as ready
Cytopenias and congenital anaemias GFI1 Arianna Tucci commented on GFI1
Cytopenias and congenital anaemias DHFR Arianna Tucci marked DHFR as ready
Cytopenias and congenital anaemias HBA2 Sarah Leigh commented on HBA2
Cytopenias and congenital anaemias HBA1 Sarah Leigh commented on HBA1
Cytopenias and congenital anaemias CEBPA Sarah Leigh commented on CEBPA
Cytopenias and congenital anaemias RPL26 Sarah Leigh reviewed RPL26
Cytopenias and congenital anaemias RPS29 Sarah Leigh reviewed RPS29
Cytopenias and congenital anaemias RPL15 Sarah Leigh reviewed RPL15
Cytopenias and congenital anaemias HOXA11 Sarah Leigh reviewed HOXA11
Cytopenias and congenital anaemias ERCC6L2 Sarah Leigh reviewed ERCC6L2
Cytopenias and congenital anaemias TAZ Sarah Leigh edited their review of TAZ
Cytopenias and congenital anaemias ITGA2B Sarah Leigh reviewed ITGA2B
Cytopenias and congenital anaemias TERT Sarah Leigh reviewed TERT
Cytopenias and congenital anaemias NBN Sarah Leigh reviewed NBN
Cytopenias and congenital anaemias IFNG Sarah Leigh reviewed IFNG
Cytopenias and congenital anaemias GLRX5 Sarah Leigh edited their review of GLRX5
Cytopenias and congenital anaemias HEPH Olivia Niblock reviewed HEPH
Cytopenias and congenital anaemias POLR3GL Olivia Niblock reviewed POLR3GL
Cytopenias and congenital anaemias PIAS3 Olivia Niblock reviewed PIAS3
Cytopenias and congenital anaemias PEX11B Olivia Niblock reviewed PEX11B
Cytopenias and congenital anaemias NUDT1 Olivia Niblock reviewed NUDT1
Cytopenias and congenital anaemias LIX1L Olivia Niblock reviewed LIX1L
Cytopenias and congenital anaemias ITGA10 Olivia Niblock reviewed ITGA10
Cytopenias and congenital anaemias HFE2 Olivia Niblock reviewed HFE2
Cytopenias and congenital anaemias GNRHR2 Olivia Niblock reviewed GNRHR2
Cytopenias and congenital anaemias ANKRD35 Olivia Niblock reviewed ANKRD35
Cytopenias and congenital anaemias ANKRD34A Olivia Niblock reviewed ANKRD34A
Cytopenias and congenital anaemias RMRP Olivia Niblock reviewed RMRP
Cytopenias and congenital anaemias MYD88 Olivia Niblock reviewed MYD88
Cytopenias and congenital anaemias ITGB3 Helen Brittain reviewed ITGB3
Cytopenias and congenital anaemias RAC2 Helen Brittain reviewed RAC2
Cytopenias and congenital anaemias FCGR3B Helen Brittain reviewed FCGR3B
Cytopenias and congenital anaemias SLC34A1 Helen Brittain reviewed SLC34A1
Cytopenias and congenital anaemias JAK2 Helen Brittain reviewed JAK2
Cytopenias and congenital anaemias ACSL6 Helen Brittain reviewed ACSL6
Cytopenias and congenital anaemias TET2 Helen Brittain reviewed TET2
Cytopenias and congenital anaemias SF3B1 Helen Brittain reviewed SF3B1
Cytopenias and congenital anaemias IRF1 Helen Brittain reviewed IRF1
Cytopenias and congenital anaemias TP53 Helen Brittain reviewed TP53
Cytopenias and congenital anaemias SRSF2 Helen Brittain reviewed SRSF2
Cytopenias and congenital anaemias SH3BP1 Helen Brittain reviewed SH3BP1
Cytopenias and congenital anaemias SETBP1 Helen Brittain reviewed SETBP1
Cytopenias and congenital anaemias NRAS Helen Brittain reviewed NRAS
Cytopenias and congenital anaemias NF1 Helen Brittain reviewed NF1
Cytopenias and congenital anaemias KRAS Helen Brittain reviewed KRAS
Cytopenias and congenital anaemias JAK3 Helen Brittain reviewed JAK3
Cytopenias and congenital anaemias FLT3 Helen Brittain reviewed FLT3
Cytopenias and congenital anaemias EZH2 Helen Brittain reviewed EZH2
Cytopenias and congenital anaemias PTEN Helen Brittain reviewed PTEN
Cytopenias and congenital anaemias HRAS Helen Brittain reviewed HRAS
Cytopenias and congenital anaemias NPM1 Arianna Tucci reviewed NPM1
Cytopenias and congenital anaemias KMT2A Arianna Tucci reviewed KMT2A
Cytopenias and congenital anaemias KIT Arianna Tucci reviewed KIT
Cytopenias and congenital anaemias KDM6A Arianna Tucci reviewed KDM6A
Cytopenias and congenital anaemias IDH2 Arianna Tucci reviewed IDH2
Cytopenias and congenital anaemias IDH1 Arianna Tucci reviewed IDH1
Cytopenias and congenital anaemias GNAS Arianna Tucci reviewed GNAS
Cytopenias and congenital anaemias CUX1 Arianna Tucci reviewed CUX1
Cytopenias and congenital anaemias NOTCH1 Arianna Tucci reviewed NOTCH1
Cytopenias and congenital anaemias DHFR Arianna Tucci reviewed DHFR
Cytopenias and congenital anaemias MYH9 Arianna Tucci reviewed MYH9
Cytopenias and congenital anaemias TUBB1 Arianna Tucci reviewed TUBB1
Cytopenias and congenital anaemias RPS14 Arianna Tucci reviewed RPS14
Cytopenias and congenital anaemias TINF2 Arianna Tucci reviewed TINF2
Cytopenias and congenital anaemias WRAP53 Arianna Tucci reviewed WRAP53
Cytopenias and congenital anaemias CD36 Arianna Tucci reviewed CD36
Cytopenias and congenital anaemias PIGT Arianna Tucci reviewed PIGT
Cytopenias and congenital anaemias EPHX1 Arianna Tucci reviewed EPHX1
Cytopenias and congenital anaemias PIGA Arianna Tucci reviewed PIGA
Cytopenias and congenital anaemias TERC Arianna Tucci reviewed TERC
Cytopenias and congenital anaemias PTPN11 Sarah Leigh marked PTPN11 as ready
Cytopenias and congenital anaemias PTPN11 Sarah Leigh commented on PTPN11
Cytopenias and congenital anaemias NOTCH1 Sarah Leigh marked NOTCH1 as ready
Cytopenias and congenital anaemias NOTCH1 Sarah Leigh commented on NOTCH1
Cytopenias and congenital anaemias ZRSR2 Rebecca Foulger classified ZRSR2 as red
Cytopenias and congenital anaemias GLRX5 Sarah Leigh marked GLRX5 as ready
Cytopenias and congenital anaemias ZRSR2 Rebecca Foulger commented on ZRSR2
Cytopenias and congenital anaemias SMC1A Sarah Leigh marked SMC1A as ready
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger classified U2AF1 as red
Cytopenias and congenital anaemias SMC1A Sarah Leigh commented on SMC1A
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias U2AF1 Rebecca Foulger commented on U2AF1
Cytopenias and congenital anaemias RAD21 Sarah Leigh marked RAD21 as ready
Cytopenias and congenital anaemias RAD21 Sarah Leigh commented on RAD21
Cytopenias and congenital anaemias STAG2 Rebecca Foulger commented on STAG2
Cytopenias and congenital anaemias STAG2 Rebecca Foulger classified STAG2 as red
Cytopenias and congenital anaemias STAG2 Rebecca Foulger commented on STAG2
Cytopenias and congenital anaemias SMC3 Rebecca Foulger edited their review of SMC3
Cytopenias and congenital anaemias SMC3 Rebecca Foulger classified SMC3 as red
Cytopenias and congenital anaemias SMC3 Rebecca Foulger commented on SMC3
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as green
Cytopenias and congenital anaemias MPL Rebecca Foulger classified MPL as green
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger classified RUNX1 as red
Cytopenias and congenital anaemias WT1 Sarah Leigh marked WT1 as ready
Cytopenias and congenital anaemias WT1 Sarah Leigh commented on WT1
Cytopenias and congenital anaemias PHF6 Sarah Leigh marked PHF6 as ready
Cytopenias and congenital anaemias PHF6 Sarah Leigh commented on PHF6
Cytopenias and congenital anaemias SRP72 Rebecca Foulger classified SRP72 as red
Cytopenias and congenital anaemias SRP72 Rebecca Foulger commented on SRP72
Cytopenias and congenital anaemias NHP2 Sarah Leigh marked NHP2 as ready
Cytopenias and congenital anaemias NHP2 Sarah Leigh classified NHP2 as amber
Cytopenias and congenital anaemias NHP2 Sarah Leigh commented on NHP2
Cytopenias and congenital anaemias NOP10 Sarah Leigh classified NOP10 as red
Cytopenias and congenital anaemias NOP10 Sarah Leigh commented on NOP10
Cytopenias and congenital anaemias PDGFRA Sarah Leigh marked PDGFRA as ready
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as amber
Cytopenias and congenital anaemias MPL Rebecca Foulger classified MPL as amber
Cytopenias and congenital anaemias PDGFRA Sarah Leigh commented on PDGFRA
Cytopenias and congenital anaemias NT5C3A Sarah Leigh marked NT5C3A as ready
Cytopenias and congenital anaemias NT5C3A Sarah Leigh commented on NT5C3A
Cytopenias and congenital anaemias PFKM Sarah Leigh marked PFKM as ready
Cytopenias and congenital anaemias PFKM Sarah Leigh commented on PFKM
Cytopenias and congenital anaemias MTR Rebecca Foulger marked MTR as ready
Cytopenias and congenital anaemias USB1 Sarah Leigh classified USB1 as red
Cytopenias and congenital anaemias MTRR Rebecca Foulger marked MTRR as ready
Cytopenias and congenital anaemias DKC1 Sarah Leigh marked DKC1 as ready
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger marked ADAMTS13 as ready
Cytopenias and congenital anaemias DKC1 Sarah Leigh commented on DKC1
Cytopenias and congenital anaemias FANCB Rebecca Foulger marked FANCB as ready
Cytopenias and congenital anaemias FANCB Rebecca Foulger classified FANCB as green
Cytopenias and congenital anaemias FANCB Rebecca Foulger commented on FANCB
Cytopenias and congenital anaemias USB1 Sarah Leigh classified USB1 as green
Cytopenias and congenital anaemias USB1 Sarah Leigh commented on USB1
Cytopenias and congenital anaemias USB1 Sarah Leigh marked USB1 as ready
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RPL19 Sarah Leigh marked RPL19 as ready
Cytopenias and congenital anaemias RPL19 Sarah Leigh commented on RPL19
Cytopenias and congenital anaemias AK1 Rebecca Foulger marked AK1 as ready
Cytopenias and congenital anaemias AK1 Rebecca Foulger classified AK1 as green
Cytopenias and congenital anaemias AK1 Rebecca Foulger commented on AK1
Cytopenias and congenital anaemias GSS Rebecca Foulger marked GSS as ready
Cytopenias and congenital anaemias GSS Rebecca Foulger classified GSS as green
Cytopenias and congenital anaemias GSS Rebecca Foulger commented on GSS
Cytopenias and congenital anaemias CD59 Rebecca Foulger marked CD59 as ready
Cytopenias and congenital anaemias CD59 Rebecca Foulger classified CD59 as green
Cytopenias and congenital anaemias CD59 Rebecca Foulger commented on CD59
Cytopenias and congenital anaemias SRP72 Rebecca Foulger commented on SRP72
Cytopenias and congenital anaemias GFI1 Rebecca Foulger commented on GFI1
Cytopenias and congenital anaemias GFI1 Rebecca Foulger edited their review of GFI1
Cytopenias and congenital anaemias GFI1 Rebecca Foulger classified GFI1 as green
Cytopenias and congenital anaemias GFI1 Rebecca Foulger commented on GFI1
Cytopenias and congenital anaemias HAX1 Rebecca Foulger marked HAX1 as ready
Cytopenias and congenital anaemias HAX1 Rebecca Foulger classified HAX1 as green
Cytopenias and congenital anaemias HAX1 Rebecca Foulger commented on HAX1
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger marked G6PC3 as ready
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger classified G6PC3 as green
Cytopenias and congenital anaemias G6PC3 Rebecca Foulger commented on G6PC3
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RPS24 Rebecca Foulger commented on RPS24
Cytopenias and congenital anaemias RPS19 Rebecca Foulger marked RPS19 as ready
Cytopenias and congenital anaemias RPS19 Rebecca Foulger classified RPS19 as green
Cytopenias and congenital anaemias RPS19 Rebecca Foulger commented on RPS19
Cytopenias and congenital anaemias RPS26 Rebecca Foulger marked RPS26 as ready
Cytopenias and congenital anaemias RPS26 Rebecca Foulger classified RPS26 as green
Cytopenias and congenital anaemias RPS26 Rebecca Foulger commented on RPS26
Cytopenias and congenital anaemias RPS24 Rebecca Foulger marked RPS24 as ready
Cytopenias and congenital anaemias RPS24 Rebecca Foulger classified RPS24 as green
Cytopenias and congenital anaemias RPS24 Rebecca Foulger commented on RPS24
Cytopenias and congenital anaemias RPL35A Rebecca Foulger marked RPL35A as ready
Cytopenias and congenital anaemias RPL35A Rebecca Foulger classified RPL35A as green
Cytopenias and congenital anaemias RPL35A Rebecca Foulger commented on RPL35A
Cytopenias and congenital anaemias RPL5 Rebecca Foulger marked RPL5 as ready
Cytopenias and congenital anaemias RPL5 Rebecca Foulger classified RPL5 as green
Cytopenias and congenital anaemias RPL5 Rebecca Foulger commented on RPL5
Cytopenias and congenital anaemias RPL11 Rebecca Foulger marked RPL11 as ready
Cytopenias and congenital anaemias RPL11 Rebecca Foulger classified RPL11 as green
Cytopenias and congenital anaemias RPL11 Rebecca Foulger commented on RPL11
Cytopenias and congenital anaemias RPS7 Rebecca Foulger marked RPS7 as ready
Cytopenias and congenital anaemias RPS7 Rebecca Foulger classified RPS7 as green
Cytopenias and congenital anaemias RPS7 Rebecca Foulger commented on RPS7
Cytopenias and congenital anaemias RPL9 Sarah Leigh marked RPL9 as ready
Cytopenias and congenital anaemias RPL9 Sarah Leigh commented on RPL9
Cytopenias and congenital anaemias RPS10 Rebecca Foulger marked RPS10 as ready
Cytopenias and congenital anaemias RPS10 Rebecca Foulger classified RPS10 as green
Cytopenias and congenital anaemias RPS10 Rebecca Foulger commented on RPS10
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias RUNX1 Rebecca Foulger commented on RUNX1
Cytopenias and congenital anaemias GATA2 Rebecca Foulger marked GATA2 as ready
Cytopenias and congenital anaemias GATA2 Rebecca Foulger commented on GATA2
Cytopenias and congenital anaemias GATA2 Rebecca Foulger commented on GATA2
Cytopenias and congenital anaemias MTR Rebecca Foulger classified MTR as green
Cytopenias and congenital anaemias MTR Rebecca Foulger commented on MTR
Cytopenias and congenital anaemias MTRR Rebecca Foulger classified MTRR as green
Cytopenias and congenital anaemias MTRR Rebecca Foulger commented on MTRR
Cytopenias and congenital anaemias MPL Rebecca Foulger commented on MPL
Cytopenias and congenital anaemias MPL Rebecca Foulger commented on MPL
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger classified ADAMTS13 as green
Cytopenias and congenital anaemias ADAMTS13 Rebecca Foulger commented on ADAMTS13
Cytopenias and congenital anaemias RPS27 Sarah Leigh marked RPS27 as ready
Cytopenias and congenital anaemias RPS27 Sarah Leigh commented on RPS27
Cytopenias and congenital anaemias RPL27 Sarah Leigh marked RPL27 as ready
Cytopenias and congenital anaemias RPL27 Sarah Leigh commented on RPL27
Cytopenias and congenital anaemias RPS29 Sarah Leigh classified RPS29 as amber
Cytopenias and congenital anaemias RPS29 Sarah Leigh classified RPS29 as green
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh classified IKZF1 as amber
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh commented on IKZF1
Cytopenias and congenital anaemias IKZF1 Ellen McDonagh classified IKZF1 as amber
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh marked FBXW7 as ready
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh classified FBXW7 as red
Cytopenias and congenital anaemias FBXW7 Ellen McDonagh commented on FBXW7
Cytopenias and congenital anaemias TAZ Sarah Leigh commented on TAZ
Cytopenias and congenital anaemias GLRX5 Sarah Leigh classified GLRX5 as green
Cytopenias and congenital anaemias GLRX5 Sarah Leigh commented on GLRX5
Cytopenias and congenital anaemias HBD Ellen McDonagh classified HBD as amber
Cytopenias and congenital anaemias COX4I2 Ellen McDonagh classified COX4I2 as amber
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as amber
Cytopenias and congenital anaemias ALDOA Louise Daugherty marked ALDOA as ready
Cytopenias and congenital anaemias ALDOA Louise Daugherty classified ALDOA as green
Cytopenias and congenital anaemias ALDOA Louise Daugherty classified ALDOA as amber
Cytopenias and congenital anaemias ALDOA Louise Daugherty commented on ALDOA
Cytopenias and congenital anaemias SPTA1 Louise Daugherty marked SPTA1 as ready
Cytopenias and congenital anaemias SPTA1 Louise Daugherty classified SPTA1 as green
Cytopenias and congenital anaemias SPTA1 Louise Daugherty commented on SPTA1
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty marked SLC2A1 as ready
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty classified SLC2A1 as green
Cytopenias and congenital anaemias SLC2A1 Louise Daugherty commented on SLC2A1
Cytopenias and congenital anaemias RHAG Louise Daugherty marked RHAG as ready
Cytopenias and congenital anaemias RHAG Louise Daugherty classified RHAG as green
Cytopenias and congenital anaemias RHAG Louise Daugherty commented on RHAG
Cytopenias and congenital anaemias CEBPA Ellen McDonagh classified CEBPA as amber
Cytopenias and congenital anaemias PRKG1 Louise Daugherty marked PRKG1 as ready
Cytopenias and congenital anaemias PRKG1 Louise Daugherty classified PRKG1 as red
Cytopenias and congenital anaemias PRKG1 Louise Daugherty commented on PRKG1
Cytopenias and congenital anaemias PKLR Louise Daugherty marked PKLR as ready
Cytopenias and congenital anaemias PKLR Louise Daugherty classified PKLR as green
Cytopenias and congenital anaemias PKLR Louise Daugherty commented on PKLR
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty marked PIEZO1 as ready
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty classified PIEZO1 as green
Cytopenias and congenital anaemias PIEZO1 Louise Daugherty commented on PIEZO1
Cytopenias and congenital anaemias LPIN2 Louise Daugherty marked LPIN2 as ready
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh marked CDKN2A as ready
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh classified CDKN2A as red
Cytopenias and congenital anaemias CDKN2A Ellen McDonagh commented on CDKN2A
Cytopenias and congenital anaemias LPIN2 Louise Daugherty classified LPIN2 as green
Cytopenias and congenital anaemias LPIN2 Louise Daugherty commented on LPIN2
Cytopenias and congenital anaemias CBLC Ellen McDonagh marked CBLC as ready
Cytopenias and congenital anaemias CBLC Ellen McDonagh classified CBLC as red
Cytopenias and congenital anaemias CBLC Ellen McDonagh commented on CBLC
Cytopenias and congenital anaemias CBLB Ellen McDonagh marked CBLB as ready
Cytopenias and congenital anaemias CBLB Ellen McDonagh classified CBLB as red
Cytopenias and congenital anaemias CBLB Ellen McDonagh commented on CBLB
Cytopenias and congenital anaemias KIF23 Louise Daugherty marked KIF23 as ready
Cytopenias and congenital anaemias KIF23 Louise Daugherty classified KIF23 as green
Cytopenias and congenital anaemias RAD51C Helen Brittain marked RAD51C as ready
Cytopenias and congenital anaemias ATRX Helen Brittain marked ATRX as ready
Cytopenias and congenital anaemias ATRX Helen Brittain reviewed ATRX
Cytopenias and congenital anaemias HBG2 Louise Daugherty classified HBG2 as amber
Cytopenias and congenital anaemias HBG2 Louise Daugherty commented on HBG2
Cytopenias and congenital anaemias HBG1 Louise Daugherty classified HBG1 as amber
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as amber
Cytopenias and congenital anaemias HBA2 Louise Daugherty commented on HBA2
Cytopenias and congenital anaemias HBA2 Louise Daugherty classified HBA2 as amber
Cytopenias and congenital anaemias HBA1 Louise Daugherty classified HBA1 as amber
Cytopenias and congenital anaemias HBA1 Louise Daugherty commented on HBA1
Cytopenias and congenital anaemias KIF23 Louise Daugherty commented on KIF23
Cytopenias and congenital anaemias PFKM Louise Daugherty classified PFKM as green
Cytopenias and congenital anaemias PFKM Louise Daugherty commented on PFKM
Cytopenias and congenital anaemias GSR Helen Brittain marked GSR as ready
Cytopenias and congenital anaemias GSR Helen Brittain reviewed GSR
Cytopenias and congenital anaemias GPX1 Helen Brittain marked GPX1 as ready
Cytopenias and congenital anaemias GPX1 Helen Brittain reviewed GPX1
Cytopenias and congenital anaemias GCLC Helen Brittain marked GCLC as ready
Cytopenias and congenital anaemias GCLC Helen Brittain reviewed GCLC
Cytopenias and congenital anaemias GPI Helen Brittain marked GPI as ready
Cytopenias and congenital anaemias GPI Helen Brittain classified GPI as amber
Cytopenias and congenital anaemias GPI Helen Brittain reviewed GPI
Cytopenias and congenital anaemias CBL Ellen McDonagh classified CBL as amber
Cytopenias and congenital anaemias CBL Ellen McDonagh commented on CBL
Cytopenias and congenital anaemias CBL Ellen McDonagh classified CBL as amber
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as red
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh classified BRCA1 as amber
Cytopenias and congenital anaemias BRCA1 Ellen McDonagh commented on BRCA1
Cytopenias and congenital anaemias BRAF Ellen McDonagh marked BRAF as ready
Cytopenias and congenital anaemias BRAF Ellen McDonagh commented on BRAF
Cytopenias and congenital anaemias NT5C3A Louise Daugherty classified NT5C3A as green
Cytopenias and congenital anaemias NT5C3A Louise Daugherty commented on NT5C3A
Cytopenias and congenital anaemias HK1 Louise Daugherty marked HK1 as ready
Cytopenias and congenital anaemias HK1 Louise Daugherty classified HK1 as green
Cytopenias and congenital anaemias HK1 Louise Daugherty commented on HK1
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh marked DNMT3A as ready
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh commented on DNMT3A
Cytopenias and congenital anaemias DNMT3A Ellen McDonagh classified DNMT3A as red
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh marked BCORL1 as ready
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh classified BCORL1 as red
Cytopenias and congenital anaemias BCORL1 Ellen McDonagh commented on BCORL1
Cytopenias and congenital anaemias BCOR Ellen McDonagh marked BCOR as ready
Cytopenias and congenital anaemias BCOR Ellen McDonagh commented on BCOR
Cytopenias and congenital anaemias BCOR Ellen McDonagh commented on BCOR
Cytopenias and congenital anaemias HBG1 Louise Daugherty commented on HBG1
Cytopenias and congenital anaemias PIGA Ellen McDonagh commented on PIGA
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as green
Cytopenias and congenital anaemias HBB Louise Daugherty classified HBB as red
Cytopenias and congenital anaemias HBB Louise Daugherty commented on HBB
Cytopenias and congenital anaemias G6PD Louise Daugherty marked G6PD as ready
Cytopenias and congenital anaemias KLF1 Louise Daugherty marked KLF1 as ready
Cytopenias and congenital anaemias SEC23B Louise Daugherty marked SEC23B as ready
Cytopenias and congenital anaemias SEC23B Louise Daugherty commented on SEC23B
Cytopenias and congenital anaemias TMPRSS6 Louise Daugherty marked TMPRSS6 as ready
Cytopenias and congenital anaemias TMPRSS6 Louise Daugherty commented on TMPRSS6
Cytopenias and congenital anaemias ANK1 Louise Daugherty marked ANK1 as ready
Cytopenias and congenital anaemias ANK1 Louise Daugherty classified ANK1 as green
Cytopenias and congenital anaemias AMN Helen Brittain marked AMN as ready
Cytopenias and congenital anaemias AMN Helen Brittain classified AMN as green
Cytopenias and congenital anaemias YARS2 Helen Brittain marked YARS2 as ready
Cytopenias and congenital anaemias YARS2 Helen Brittain classified YARS2 as green
Cytopenias and congenital anaemias WAS Helen Brittain marked WAS as ready
Cytopenias and congenital anaemias WAS Helen Brittain classified WAS as green
Cytopenias and congenital anaemias SLX4 Helen Brittain marked SLX4 as ready
Cytopenias and congenital anaemias SLX4 Helen Brittain classified SLX4 as green
Cytopenias and congenital anaemias SLC25A38 Helen Brittain marked SLC25A38 as ready
Cytopenias and congenital anaemias SLC25A38 Helen Brittain classified SLC25A38 as green
Cytopenias and congenital anaemias SLC19A2 Helen Brittain marked SLC19A2 as ready
Cytopenias and congenital anaemias SLC19A2 Helen Brittain classified SLC19A2 as green
Cytopenias and congenital anaemias SLC11A2 Helen Brittain marked SLC11A2 as ready
Cytopenias and congenital anaemias SLC11A2 Helen Brittain classified SLC11A2 as green
Cytopenias and congenital anaemias SBDS Helen Brittain marked SBDS as ready
Cytopenias and congenital anaemias SBDS Helen Brittain classified SBDS as green
Cytopenias and congenital anaemias RTEL1 Helen Brittain marked RTEL1 as ready
Cytopenias and congenital anaemias RTEL1 Helen Brittain classified RTEL1 as green
Cytopenias and congenital anaemias RPS17 Helen Brittain marked RPS17 as ready
Cytopenias and congenital anaemias RPS17 Helen Brittain classified RPS17 as green
Cytopenias and congenital anaemias RBM8A Helen Brittain marked RBM8A as ready
Cytopenias and congenital anaemias ANK1 Louise Daugherty commented on ANK1
Cytopenias and congenital anaemias RBM8A Helen Brittain classified RBM8A as red
Cytopenias and congenital anaemias PUS1 Helen Brittain marked PUS1 as ready
Cytopenias and congenital anaemias PUS1 Helen Brittain classified PUS1 as green
Cytopenias and congenital anaemias PALB2 Helen Brittain marked PALB2 as ready
Cytopenias and congenital anaemias PALB2 Helen Brittain classified PALB2 as green
Cytopenias and congenital anaemias MASTL Helen Brittain marked MASTL as ready
Cytopenias and congenital anaemias MASTL Helen Brittain classified MASTL as red
Cytopenias and congenital anaemias GATA1 Helen Brittain marked GATA1 as ready
Cytopenias and congenital anaemias GATA1 Helen Brittain classified GATA1 as green
Cytopenias and congenital anaemias FANCM Helen Brittain marked FANCM as ready
Cytopenias and congenital anaemias FANCM Helen Brittain classified FANCM as red
Cytopenias and congenital anaemias FANCL Helen Brittain marked FANCL as ready
Cytopenias and congenital anaemias FANCL Helen Brittain classified FANCL as green
Cytopenias and congenital anaemias FANCI Helen Brittain marked FANCI as ready
Cytopenias and congenital anaemias FANCI Helen Brittain classified FANCI as green
Cytopenias and congenital anaemias CALR Louise Daugherty marked CALR as ready
Cytopenias and congenital anaemias FANCG Helen Brittain marked FANCG as ready
Cytopenias and congenital anaemias FANCG Helen Brittain classified FANCG as green
Cytopenias and congenital anaemias FANCF Helen Brittain marked FANCF as ready
Cytopenias and congenital anaemias FANCF Helen Brittain classified FANCF as green
Cytopenias and congenital anaemias FANCE Helen Brittain marked FANCE as ready
Cytopenias and congenital anaemias FANCE Helen Brittain classified FANCE as green
Cytopenias and congenital anaemias FANCD2 Helen Brittain marked FANCD2 as ready
Cytopenias and congenital anaemias FANCD2 Helen Brittain classified FANCD2 as green
Cytopenias and congenital anaemias FANCC Helen Brittain marked FANCC as ready
Cytopenias and congenital anaemias FANCC Helen Brittain classified FANCC as green
Cytopenias and congenital anaemias CALR Louise Daugherty edited their review of CALR
Cytopenias and congenital anaemias CALR Louise Daugherty commented on CALR
Cytopenias and congenital anaemias FANCA Helen Brittain marked FANCA as ready
Cytopenias and congenital anaemias FANCA Helen Brittain classified FANCA as green
Cytopenias and congenital anaemias ELANE Helen Brittain marked ELANE as ready
Cytopenias and congenital anaemias ELANE Helen Brittain classified ELANE as green
Cytopenias and congenital anaemias CYCS Helen Brittain marked CYCS as ready
Cytopenias and congenital anaemias CYCS Helen Brittain classified CYCS as red
Cytopenias and congenital anaemias CUBN Helen Brittain marked CUBN as ready
Cytopenias and congenital anaemias CUBN Helen Brittain classified CUBN as green
Cytopenias and congenital anaemias CTC1 Helen Brittain marked CTC1 as ready
Cytopenias and congenital anaemias CTC1 Helen Brittain classified CTC1 as green
Cytopenias and congenital anaemias CDAN1 Helen Brittain marked CDAN1 as ready
Cytopenias and congenital anaemias CDAN1 Helen Brittain classified CDAN1 as green
Cytopenias and congenital anaemias BRIP1 Helen Brittain marked BRIP1 as ready
Cytopenias and congenital anaemias BRIP1 Helen Brittain classified BRIP1 as green
Cytopenias and congenital anaemias BRCA2 Helen Brittain marked BRCA2 as ready
Cytopenias and congenital anaemias BRCA2 Helen Brittain classified BRCA2 as green
Cytopenias and congenital anaemias BAAT Helen Brittain marked BAAT as ready
Cytopenias and congenital anaemias BAAT Helen Brittain classified BAAT as red
Cytopenias and congenital anaemias ALAS2 Helen Brittain marked ALAS2 as ready
Cytopenias and congenital anaemias ALAS2 Helen Brittain classified ALAS2 as green
Cytopenias and congenital anaemias ANKRD26 Helen Brittain marked ANKRD26 as ready
Cytopenias and congenital anaemias ANKRD26 Helen Brittain classified ANKRD26 as red
Cytopenias and congenital anaemias ABCB7 Helen Brittain marked ABCB7 as ready
Cytopenias and congenital anaemias ABCB7 Helen Brittain classified ABCB7 as green
Cytopenias and congenital anaemias CXCR4 Louise Daugherty marked CXCR4 as ready
Cytopenias and congenital anaemias CXCR4 Louise Daugherty classified CXCR4 as green
Cytopenias and congenital anaemias CXCR4 Louise Daugherty commented on CXCR4
Cytopenias and congenital anaemias YARS2 Helen Brittain reviewed YARS2
Cytopenias and congenital anaemias SLC19A2 Helen Brittain reviewed SLC19A2
Cytopenias and congenital anaemias PUS1 Helen Brittain reviewed PUS1
Cytopenias and congenital anaemias MASTL Helen Brittain reviewed MASTL
Cytopenias and congenital anaemias CYCS Helen Brittain reviewed CYCS
Cytopenias and congenital anaemias AMN Helen Brittain reviewed AMN
Cytopenias and congenital anaemias CSF3R Louise Daugherty marked CSF3R as ready
Cytopenias and congenital anaemias CSF3R Louise Daugherty classified CSF3R as green
Cytopenias and congenital anaemias CUBN Helen Brittain reviewed CUBN
Cytopenias and congenital anaemias COX4I2 Helen Brittain reviewed COX4I2
Cytopenias and congenital anaemias CSF3R Louise Daugherty commented on CSF3R
Cytopenias and congenital anaemias BAAT Helen Brittain reviewed BAAT
Cytopenias and congenital anaemias ANKRD26 Helen Brittain reviewed ANKRD26
Cytopenias and congenital anaemias FANCM Helen Brittain reviewed FANCM
Cytopenias and congenital anaemias ENO1 Louise Daugherty marked ENO1 as ready
Cytopenias and congenital anaemias ENO1 Louise Daugherty classified ENO1 as red
Cytopenias and congenital anaemias ENO1 Louise Daugherty commented on ENO1
Cytopenias and congenital anaemias EPB41 Louise Daugherty marked EPB41 as ready
Cytopenias and congenital anaemias EPB41 Louise Daugherty classified EPB41 as green
Cytopenias and congenital anaemias EPB41 Louise Daugherty commented on EPB41
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty marked SLC4A1 as ready
Cytopenias and congenital anaemias EPB42 Louise Daugherty marked EPB42 as ready
Cytopenias and congenital anaemias EPB42 Louise Daugherty marked EPB42 as ready
Cytopenias and congenital anaemias ERCC4 Louise Daugherty marked ERCC4 as ready
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty classified SLC4A1 as green
Cytopenias and congenital anaemias SLC4A1 Louise Daugherty commented on SLC4A1
Cytopenias and congenital anaemias EPB42 Louise Daugherty classified EPB42 as green
Cytopenias and congenital anaemias EPB42 Louise Daugherty commented on EPB42
Cytopenias and congenital anaemias ERCC4 Louise Daugherty classified ERCC4 as green
Cytopenias and congenital anaemias ERCC4 Louise Daugherty edited their review of ERCC4
Cytopenias and congenital anaemias ERCC4 Ellen McDonagh reviewed ERCC4
Cytopenias and congenital anaemias C15orf41 Louise Daugherty marked C15orf41 as ready
Cytopenias and congenital anaemias SPTB Louise Daugherty marked SPTB as ready
Cytopenias and congenital anaemias TF Louise Daugherty marked TF as ready
Cytopenias and congenital anaemias TPI1 Louise Daugherty marked TPI1 as ready
Cytopenias and congenital anaemias TXNIP Louise Daugherty marked TXNIP as ready
Cytopenias and congenital anaemias WIPF1 Louise Daugherty marked WIPF1 as ready
Cytopenias and congenital anaemias UBE2T Louise Daugherty marked UBE2T as ready
Cytopenias and congenital anaemias VPS45 Louise Daugherty marked VPS45 as ready
Cytopenias and congenital anaemias ERCC4 Louise Daugherty commented on ERCC4
Cytopenias and congenital anaemias ERCC4 Louise Daugherty commented on ERCC4
Cytopenias and congenital anaemias C15orf41 Louise Daugherty classified C15orf41 as green
Cytopenias and congenital anaemias C15orf41 Louise Daugherty classified C15orf41 as green
Cytopenias and congenital anaemias C15orf41 Louise Daugherty edited their review of C15orf41
Cytopenias and congenital anaemias C15orf41 Louise Daugherty commented on C15orf41
Cytopenias and congenital anaemias SPTB Louise Daugherty classified SPTB as green
Cytopenias and congenital anaemias SPTB Louise Daugherty commented on SPTB
Cytopenias and congenital anaemias TF Louise Daugherty commented on TF
Cytopenias and congenital anaemias ATRX Ellen McDonagh classified ATRX as amber
Cytopenias and congenital anaemias ATRX Ellen McDonagh commented on ATRX
Cytopenias and congenital anaemias TPI1 Louise Daugherty classified TPI1 as green
Cytopenias and congenital anaemias TPI1 Louise Daugherty commented on TPI1
Cytopenias and congenital anaemias UBE2T Louise Daugherty classified UBE2T as green
Cytopenias and congenital anaemias RBM8A Helen Brittain reviewed RBM8A
Cytopenias and congenital anaemias RAD51C Helen Brittain reviewed RAD51C
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh marked ASXL1 as ready
Cytopenias and congenital anaemias PALB2 Helen Brittain reviewed PALB2
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh classified ASXL1 as red
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh classified ASXL1 as red
Cytopenias and congenital anaemias ASXL1 Ellen McDonagh commented on ASXL1
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh marked ARHGAP26 as ready
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh classified ARHGAP26 as red
Cytopenias and congenital anaemias ARHGAP26 Ellen McDonagh commented on ARHGAP26
Cytopenias and congenital anaemias ABL1 Ellen McDonagh marked ABL1 as ready
Cytopenias and congenital anaemias ABL1 Ellen McDonagh classified ABL1 as red
Cytopenias and congenital anaemias ABL1 Ellen McDonagh commented on ABL1
Cytopenias and congenital anaemias FANCL Helen Brittain reviewed FANCL
Cytopenias and congenital anaemias FANCI Helen Brittain reviewed FANCI
Cytopenias and congenital anaemias FANCG Helen Brittain reviewed FANCG
Cytopenias and congenital anaemias FANCF Helen Brittain reviewed FANCF
Cytopenias and congenital anaemias FANCE Helen Brittain reviewed FANCE
Cytopenias and congenital anaemias FANCD2 Helen Brittain reviewed FANCD2
Cytopenias and congenital anaemias FANCC Helen Brittain reviewed FANCC
Cytopenias and congenital anaemias FANCA Helen Brittain reviewed FANCA
Cytopenias and congenital anaemias UBE2T Louise Daugherty commented on UBE2T
Cytopenias and congenital anaemias WAS Helen Brittain reviewed WAS
Cytopenias and congenital anaemias SLX4 Helen Brittain reviewed SLX4
Cytopenias and congenital anaemias VPS45 Louise Daugherty classified VPS45 as green
Cytopenias and congenital anaemias SLC25A38 Helen Brittain reviewed SLC25A38
Cytopenias and congenital anaemias VPS45 Louise Daugherty commented on VPS45
Cytopenias and congenital anaemias WIPF1 Louise Daugherty commented on WIPF1
Cytopenias and congenital anaemias SLC11A2 Helen Brittain reviewed SLC11A2
Cytopenias and congenital anaemias SBDS Helen Brittain reviewed SBDS
Cytopenias and congenital anaemias CDAN1 Helen Brittain reviewed CDAN1
Cytopenias and congenital anaemias BRIP1 Helen Brittain reviewed BRIP1
Cytopenias and congenital anaemias ALAS2 Helen Brittain reviewed ALAS2
Cytopenias and congenital anaemias BRCA2 Helen Brittain reviewed BRCA2
Cytopenias and congenital anaemias Louise Daugherty approved panel
Cytopenias and congenital anaemias FANCB Louise Daugherty added FANCB to panel
Cytopenias and congenital anaemias FANCB Louise Daugherty reviewed FANCB