1. Genes and Genomic Entities
  2. FSD1L

FSD1L

fibronectin type III and SPRY domain containing 1 like
OMIM: 609829, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber FSD1L in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber FSD1L in Malformations of cortical development


Level 2: Neurology
Version 7.39
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber FSD1L in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.54
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber FSD1L in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.184
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber FSD1L in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.170
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber FSD1L in Intellectual disability


    Level 2: Developmental disorders
    Version 9.355
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    Amber FSD1L in Retinal disorders


    Level 2: Ophthalmology
    Version 8.108
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • retinitis pigmentosa, MONDO:0019200
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • Q1_26_promote_green
    • Q1_26_NHS_review