IGF2

insulin like growth factor 2
OMIM: 147470, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green IGF2 in Genomic imprinting


Version 0.104

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome
  • Affected tissue: all

Green IGF2 in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert Review Green
  • UKGTN
Phenotypes
  • Silver Russell syndrome, 180860

Red IGF2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.35

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Literature
  • Expert Review
Phenotypes
  • Pre- and post-natal growth failure
  • Silver-Russell phenptype
  • IUGR
Tags
  • watchlist

Red IGF2 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.20
Latest signed off version: v2.5 (4 Mar 2020)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome

Red IGF2 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome

Green IGF2 in Fetal anomalies


Version 1.678
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
  • BECKWITH-WIEDEMANN SYNDROME

Green IGF2 in DDG2P


Version 2.28
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BECKWITH-WIEDEMANN SYNDROME 130650
    • CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860

    Green IGF2 in Growth failure in early childhood


    Version 1.70
    Latest signed off version: v1.4 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • SRS
    • IUGR
    • Pre- and post-natal growth failure
    • ?Growth restriction, severe, with distinctive facies, 616489
    • Silver-Russell phenptype

    Red IGF2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    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 Other - please specify in evaluation comments
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Beckwith-Wiedemann Syndrome
    • Chromosome 11p15.5-Related Russell-Silver Syndrome

    Green IGF2 in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Beckwith-Wiedemann Syndrome
    • Chromosome 11p15.5-Related Russell-Silver Syndrome