Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: SLX4

Green List (high evidence)

SLX4 (SLX4 structure-specific endonuclease subunit)
EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 10 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, haematological disorder

Treatment: Haematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Non-genetic confirmatory test: MMC- and/or DEB-induced chromosome breakage analysis
Created: 13 Dec 2022, 4:30 a.m. | Last Modified: 13 Dec 2022, 4:30 a.m.
Panel Version: 0.1364

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group P, MIM# 613951

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Fanconi anaemia, complementation group P, MIM# 613951
Tags
treatable haematological
OMIM
613278
Clinvar variants
Variants in SLX4
Penetrance
None
Panels with this gene

History Filter Activity

13 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: SLX4. Tag haematological tag was added to gene: SLX4.

13 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slx4 has been classified as Green List (High Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLX4 was added gene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951