SBF1

SET binding factor 1
OMIM: 603560, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SBF1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green SBF1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B3, 615284
Green SBF1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4B3 615284
    Green SBF1 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • South West GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4B3, 615284
    Green SBF1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4B3, 615284