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  2. IUGR and IGF abnormalities
  3. IGFALS
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IUGR and IGF abnormalities

Gene: IGFALS

Green List (high evidence)
IGFALS (insulin like growth factor binding protein acid labile subunit)
EnsemblGeneIds (GRCh38): ENSG00000099769
EnsemblGeneIds (GRCh37): ENSG00000099769
OMIM: 601489, Gene2Phenotype
IGFALS is in 3 panels

2 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acid-labile subunit, deficiency of, OMIM:615961
  • Short stature
  • Delayed puberty
  • Very low IGF-I levels
OMIM
601489
Clinvar variants
Variants in IGFALS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGFALS were changed from Short stature; delayed puberty; very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Oct 2015, Gel status: 0

Added New Source

Peter Clayton (University of Manchester)

IGFALS was added to IUGR and IGF abnormalitiespanel. Sources: Literature

22 Oct 2015, Gel status: 0

Created

Peter Clayton (University of Manchester)

IGFALS was created by peter.clayton