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  3. IGFALS
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Fetal anomalies

Gene: IGFALS

Amber List (moderate evidence)
IGFALS (insulin like growth factor binding protein acid labile subunit)
EnsemblGeneIds (GRCh38): ENSG00000099769
EnsemblGeneIds (GRCh37): ENSG00000099769
OMIM: 601489, Gene2Phenotype
IGFALS is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

On monogenic short stature panel. Biallelic variants associated with mild postnatal growth retardation, but effect on prenatal growth is uncertain (PMID: 20679994). Homozygous c.401T>A; p.L134Q in two sibs with varying degrees of prenatal growth retardation (PMID 25352235). Homozygous frameshift in a patient with short stature who was SGA at birth (30717585).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature due to primary acid-labile subunit deficiency, MONDO:0014420; Acid-labile subunit, deficiency of, OMIM:615961

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • short stature due to primary acid-labile subunit deficiency, MONDO:0014420
  • Acid-labile subunit, deficiency of, OMIM:615961
OMIM
601489
Clinvar variants
Variants in IGFALS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: IGFALS was added gene: IGFALS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFALS were set to 25352235 Phenotypes for gene: IGFALS were set to short stature due to primary acid-labile subunit deficiency, MONDO:0014420; Acid-labile subunit, deficiency of, OMIM:615961