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Intellectual disability

Gene: GIGYF1

Amber List (moderate evidence)
GIGYF1 (GRB10 interacting GYF protein 1)
EnsemblGeneIds (GRCh38): ENSG00000146830
EnsemblGeneIds (GRCh37): ENSG00000146830
OMIM: 612064, Gene2Phenotype
GIGYF1 is in 2 panels

3 reviews

Jana Jezkova (All Wales Medical Genomics Service)

I don't know

Non-specific phenotype. Large number of LoF variants in GnomAD and no LoF constraint. GIGYF1 was reported as the second-most mutated among known ASD high-confidence risk genes. (PMID:35917186). Tier 1, high-confidence developmental brain disorder gene in NDD GeneHub. GIGYF1 regulates recycling of IGF-1R to the cell surface; knockout reduced surface IGF-1R and disrupted IGF-1R/ERK signaling, providing a plausible NDD mechanism (PMID:36189799). Zebrafish and mouse LoF models recapitulated neurodevelopmental phenotypes (PMID:36924980).

PMID: 35917186 Number of Families: 55 Affected Individuals: 60
PMID: 36924980 Number of Families: 7 Affected Individuals: 7
Created: 25 Jun 2026, 2:07 p.m. | Last Modified: 25 Jun 2026, 2:07 p.m.
Panel Version: 10.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ASD; NDD

Publications

Created: 25 Jun 2026, 2:07 p.m.
Last Modified: 25 Jun 2026, 2:07 p.m.
Panel version: 10.30

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:17 p.m. | Last Modified: 4 Dec 2020, 2:17 p.m.
Panel Version: 3.580
Created: 4 Dec 2020, 2:17 p.m.
Last Modified: 4 Dec 2020, 2:17 p.m.
Panel version: 3.580

Zornitza Stark (Australian Genomics)

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 14 de novo variants (4 frameshift, 5 missense, 1 splice donor, 3 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature
Created: 4 Nov 2020, 4:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorder

Publications

Created: 4 Nov 2020, 4:34 a.m.

Panel version: 3.510

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorder
OMIM
612064
Clinvar variants
Variants in GIGYF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gigyf1 has been classified as Amber List (Moderate Evidence).

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GIGYF1 was added gene: GIGYF1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GIGYF1 were set to 33057194 Phenotypes for gene: GIGYF1 were set to Developmental disorder Review for gene: GIGYF1 was set to AMBER