Cytopenias and congenital anaemias
Gene: SLX4EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 18 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence of causation for FA phenotypeCreated: 28 Feb 2017, 2:13 p.m.
4 individuals (3 families) in second PMID, phenotype of FACreated: 22 Feb 2017, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group P 613951
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group P, 613951
- OMIM
- 613278
- Clinvar variants
- Variants in SLX4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- 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
- Intellectual disability
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SLX4 were set to Fanconi Anemia; Fanconi anemia, complementation group P, 613951;
Set publications
Helen Brittain (Genomics England Curator)Publications for SLX4 were set to 21240275; 21240277
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)SLX4 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)SLX4 was created by LouiseD