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Paediatric disorders - additional genes

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 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Numerous biallelic IGFALS variants have been associated with short stature due to primary acid-labile subunit deficiency, MONDO:0014420 (PMID:14762184; 16507628; 17726072; 18303074; 20591980; 21396577; 23488611; 24819402; 24423360; 27018247; 30717585; 36348166).
Created: 8 Apr 2025, 2:48 p.m. | Last Modified: 8 Apr 2025, 2:48 p.m.
Panel Version: 6.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Apr 2025, 2:48 p.m.
Last Modified: 8 Apr 2025, 2:48 p.m.
Panel version: 6.18

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

This gene is on the R453 panel but absent from R27 - adding so that syndromic cases of short stature have all genes on the R453 panel covered.
Sources: NHS GMS
Created: 18 Nov 2024, 12:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
short stature

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

Created: 18 Nov 2024, 12:22 p.m.

Panel version: 6.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Acid-labile subunit, deficiency of, OMIM:615961
  • short stature due to primary acid-labile subunit deficiency, MONDO:0014420
Tags
Q2_25_ promote_green Q2_25_ NHS_review
OMIM
601489
Clinvar variants
Variants in IGFALS
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

8 Apr 2025, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: IGFALS. Tag Q2_25_ NHS_review tag was added to gene: IGFALS.

8 Apr 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IGFALS were set to

8 Apr 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IGFALS were changed from short stature to Acid-labile subunit, deficiency of, OMIM:615961; short stature due to primary acid-labile subunit deficiency, MONDO:0014420

8 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: igfals has been classified as Amber List (Moderate Evidence).

18 Nov 2024, Gel status: 0

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

Tracy Lester (Genetics laboratory, Oxford UK)

gene: IGFALS was added gene: IGFALS was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGFALS were set to short stature Penetrance for gene: IGFALS were set to unknown Review for gene: IGFALS was set to GREEN gene: IGFALS was marked as current diagnostic