PanelApp
  1. Genes and Genomic Entities
  2. SLX4

SLX4

SLX4 structure-specific endonuclease subunit
OMIM: 613278, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SLX4 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group P, MIM# 613951

    Green SLX4 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group P, MIM# 613951
    • MONDO:0013499

    Green SLX4 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951
    • MONDO:0013499

    Green SLX4 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group P, MIM#613951

    Green SLX4 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951
    • MONDO:0013499

    Green SLX4 in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951

    Red SLX4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951

    Green SLX4 in Growth failure


    Version 1.83

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group P, MIM# 613951

    Green SLX4 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951
    • MONDO:0013499

    Green SLX4 in IBMDx study


    Version 0.38

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group P, MIM# 613951

    Green SLX4 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Fanconi anaemia, complementation group P, MIM# 613951
    Tags
    • treatable
    • haematological