PanelApp
  1. Genes and Genomic Entities
  2. KLHL7

KLHL7

kelch like family member 7
OMIM: 611119, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KLHL7 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green KLHL7 in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • PERCHING syndrome (MIM#617055)
    • Retinitis pigmentosa 42 (MIM#612943)

    Amber KLHL7 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.357

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • PERCHING syndrome, MIM# 617055

    Green KLHL7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • PERCHING syndrome MONDO:0014890
    • acrocallosal syndrome MONDO:0008708

    Green KLHL7 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.80

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 42, 612943

    Green KLHL7 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • PERCHING syndrome, 617055 (3)

    Green KLHL7 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • PERCHING syndrome, MONDO:0014890
    • PERCHING syndrome, OMIM:617055

    Green KLHL7 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • PERCHING syndrome, MIM#617055