Radial dysplasia
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: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 10:06 a.m.
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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- 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
- 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SLX4 were set to Fanconi anemia, complementation group P, 613951
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, complementation group P 613951
Set publications
Helen Brittain (Genomics England Curator)Publications for SLX4 were set to 21240275; 21240277
Upload gene information
Rebecca Foulger (Genomics England curator)SLX4 was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)SLX4 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)SLX4 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)SLX4 was added to Radial dysplasiapanel. Source: UKGTN
Created
Rebecca Foulger (Genomics England curator)SLX4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SLX4 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing