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Limb disorders

Gene: SLX4

Green List (high evidence)
SLX4 (SLX4 structure-specific endonuclease subunit)
EnsemblGeneIds (GRCh38): ENSG00000188827
EnsemblGeneIds (GRCh37): ENSG00000188827
OMIM: 613278, Gene2Phenotype
SLX4 is in 18 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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 phenotype
Created: 28 Feb 2017, 2:13 p.m.
4 individuals (3 families) in second PMID, phenotype of FA
Created: 22 Feb 2017, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group P 613951

Publications

Created: 22 Feb 2017, 10:40 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.15

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: 4 individuals (3 families) in

16 Oct 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SLX4. Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4 Publications for gene SLX4 were changed from to 21240277; 21240275

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLX4 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLX4 was created by Ellen McDonagh