| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 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 v1.106 | TAZ | Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.89 | POLR2C | Ivone Leong Tag watchlist was removed from gene: POLR2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.86 | 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 v1.79 | 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 v1.73 | 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 v1.71 | 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 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 v1.69 | 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 | WAS | Ellen McDonagh commented on WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | WAS | Helen Brittain reviewed WAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||