This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group P, 613951
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 613278
- Clinvar variants
- Variants in SLX4
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLX4 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLX4 was created by ellenmcdonagh