1. Genes and Genomic Entities
  2. SH3PXD2B

SH3PXD2B

SH3 and PX domains 2B
OMIM: 613293, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SH3PXD2B in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Frank-ter Haar syndrome, OMIM:249420
Green SH3PXD2B in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • FRANK-TER HAAR SYNDROME, OMIM:249420
Green SH3PXD2B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Frank-ter Haar syndrome 249420
    Green SH3PXD2B in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRANK-TER HAAR SYNDROME
    Red SH3PXD2B in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Borrone dermato-cardio-skeletal syndrome
    • Frank-ter-har 249420
    • 249420
    No list SH3PXD2B in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green SH3PXD2B in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FRANK-TER HAAR SYNDROME 249420
    Red SH3PXD2B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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 Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Frank-ter Haar syndrome, 249420
    Green SH3PXD2B in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Frank-ter Haar syndrome, 249420
    Green SH3PXD2B in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Frank-ter Haar syndrome, 249420