DISP1

dispatched RND transporter family member 1
OMIM: 607502, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red DISP1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniofacial and neuro-developmental abnormalities (Roessler (2009) Hum Genet125,393)
  • Diaphragmatic hernia, congenital (Kantarci (2010) Am J Med Genet A 152A,2493)
  • Tetralogy of Fallot (Silversides (2012) PLoS Genet 8, e1002843)
Amber DISP1 in Holoprosencephaly - NOT chromosomal


Level 2: Neurology
Version 5.7
Latest signed off version: v5.1 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Holoprosencephaly 10, OMIM:621143
    • holoprosencephaly 10, MONDO:0976262
    Tags
    • Q3_25_promote_green
    Green DISP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly 10, OMIM:621143
    Tags
    • Q3_25_MOI
    • Q3_25_expert_review
    Red DISP1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • HOLOPROSENCEPHALY, OMIM:609637