DISP1

dispatched RND transporter family member 1
OMIM: 607502, Gene2Phenotype

5 panels

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

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

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)
Green DISP1 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • holoprosencephaly MONDO:0016296
    Tags
    • to_be_confirmed_NHSE
    • gene-checked
    Green DISP1 in Fetal anomalies


    Version 3.160
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly
    Tags
    • gene-checked
    • watchlist
    Red DISP1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Green DISP1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Holoprosencephaly