UFSP2

UFM1 specific peptidase 2
OMIM: 611482, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UFSP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Beukes Hip Dysplasia OMIM:142669
    • hip dysplasia, Beukes type MONDO:0007726
    • ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974
    • spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702

    Green UFSP2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Poor weight gain
    • microcephaly
    • epilepsy
    • developmental delay
    • lack of speech
    • intellectual disability
    Tags
    • founder-effect

    Green UFSP2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Abnormal muscle tone
    • Seizures
    • Global developmental delay
    • Delayed speech and language development
    • Intellectual disability
    • Strabismus
    Tags
    • founder-effect