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Fetal anomalies

Gene: IGFBP7

Red List (low evidence)

IGFBP7 (insulin like growth factor binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000163453
EnsemblGeneIds (GRCh37): ENSG00000163453
OMIM: 602867, Gene2Phenotype
IGFBP7 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

>15 Saudi families with founder mutation NM_001553.2:c.830-1G>A
Created: 10 Jan 2022, 3:37 a.m. | Last Modified: 10 Jan 2022, 3:37 a.m.
Panel Version: 0.1933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224
OMIM
602867
Clinvar variants
Variants in IGFBP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igfbp7 has been classified as Red List (Low Evidence).

13 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGFBP7 were changed from RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224

13 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGFBP7 were set to

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igfbp7 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGFBP7 was added gene: IGFBP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS