IGF2:Ensemblv90

insulin like growth factor 2
OMIM: 147470, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green IGF2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth restriction, severe, with distinctive facies, MIM#616489

Green IGF2 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.57

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Red IGF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Growth restriction, severe, with distinctive facies, MIM#616489

Green IGF2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Growth failure


Version 1.87

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Silver-Russell syndrome 3, MIM #616489

Green IGF2 in Imprinting disorders


Version 1.9

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: all
  • 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 3, MIM #616489

Green IGF2 in Fetal anomalies


Version 1.482

2 reviews MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
  • Genetic Health Queensland
Phenotypes
  • Growth restriction, severe, with distinctive facies, MIM#616489

Green IGF2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 3 MIM#616489

Green IGF2 in Growth failure


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 3, MIM #616489

Green IGF2 in Imprinting disorders


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Affected tissue: all
  • 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 3, MIM #616489

Green IGF2 in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Genetic Health Queensland
  • Literature
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Growth restriction, severe, with distinctive facies, MIM#616489