This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: SLX4
SLX4 (SLX4 structure-specific endonuclease subunit)
EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 18 panels
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Details
- Sources
-
- Expert list
- Phenotypes
-
- Fanconi anemia
- OMIM
- 613278
- Clinvar variants
- Variants in SLX4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Childhood solid tumours
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Limb disorders
- DDG2P
History Filter Activity
19 Nov 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLX4 was created by ellenmcdonagh
19 Nov 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list