Early onset pancytopenia and red cell disorders
Gene: SLX4EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fanconi anemia
- Fanconi anemia, complementation group P, 613951
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 613278
- Clinvar variants
- Variants in SLX4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- Intellectual disability
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours
- DDG2P
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list