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  3. IGFALS
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Growth failure

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I and IGF-binding protein-3 concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty).

More than 5 unrelated families reported.
Created: 29 Aug 2021, 5:45 a.m. | Last Modified: 29 Aug 2021, 5:45 a.m.
Panel Version: 0.335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acid-labile subunit, deficiency of, MIM# 615961

Publications

Created: 29 Aug 2021, 5:45 a.m.
Last Modified: 29 Aug 2021, 5:45 a.m.
Panel version: 0.335

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Acid-labile subunit, deficiency of, MIM# 615961
OMIM
601489
Clinvar variants
Variants in IGFALS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igfals has been classified as Green List (High Evidence).

29 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGFALS were set to 14762184

29 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igfals has been classified as Green List (High Evidence).

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGFALS was added gene: IGFALS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFALS were set to 14762184 Phenotypes for gene: IGFALS were set to very low IGF-I levels; Short stature; delayed puberty