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| 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 v1.107 | 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 v1.86 | 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 v1.77 | 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. |
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| 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 |
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| 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 |
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| 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 |
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| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||