Monogenic short stature
Gene: SLX4

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore added to panel as a Green gene.
Created: 30 May 2019, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi Anemia; 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951

Publications

Created: 30 May 2019, 9:51 a.m.

Copied from panel: Growth failure in early childhood v3.77

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Fanconi anemia, complementation group P, OMIM:613951

OMIM

613278

Clinvar variants

Variants in SLX4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SLX4 was added gene: SLX4 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLX4 were set to 21240277; 21240275 Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, OMIM:613951

Monogenic short stature Gene: SLX4