PanelApp
  1. Genes and Genomic Entities
  2. FSD1L

FSD1L

fibronectin type III and SPRY domain containing 1 like
OMIM: 609829, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green FSD1L in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

Green FSD1L in Mendeliome


Version 2.543

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

Green FSD1L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.40

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Other
    Phenotypes
    • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

    Green FSD1L in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.23

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Other
    Phenotypes
    • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

    Green FSD1L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.135

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

    Green FSD1L in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.12

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Retinitis pigmentosa 109, MIM# 621656

    Green FSD1L in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Other
    Phenotypes
    • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643

    Green FSD1L in Fetal anomalies


    Version 2.76

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Other
    Phenotypes
    • Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643