1. Panels
  2. Intellectual disability
  3. GON4L
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: GON4L

Amber List (moderate evidence)
GON4L (gon-4 like)
EnsemblGeneIds (GRCh38): ENSG00000116580
EnsemblGeneIds (GRCh37): ENSG00000116580
OMIM: 610393, Gene2Phenotype
GON4L is in 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 8:48 p.m. | Last Modified: 18 Dec 2025, 8:48 p.m.
Panel Version: 9.200
Created: 18 Dec 2025, 8:48 p.m.
Last Modified: 18 Dec 2025, 8:48 p.m.
Panel version: 9.200

Sarah Leigh (Genomics England Curator)

I don't know

Comment on publications: PMID: 39500882 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 3 Mar 2025, 12:38 p.m. | Last Modified: 3 Mar 2025, 12:38 p.m.
Panel Version: 8.111
Comment on list classification: This gene is rated as amber, as only mild intellectual disability has been associated with GON4L variants (PMID: 39500882).
Created: 3 Mar 2025, 12:36 p.m. | Last Modified: 3 Mar 2025, 12:36 p.m.
Panel Version: 8.110
PMID: 39500882 reports two consanguineous families where children who are homozygous for terminating GON4L variants, have prenatal-onset growth impairment, developmental delay, and mild intellectual disability. The unaffected parents of both children and an unaffected sibling were heterozygous for the GON4L variants identified. Microcephaly was reported in the affected cases, however, it was now severe. Functional studies in gon4lb-knockout and knockdown zebrafish
revealed distinct morphological and size abnormalities, which were reminiscent of the human phenotype. Human wild type GON4L mRNA was able to rescue the craniofacial cartilage phenotypic in zebrafish larvae PMID: 39500882.
Created: 3 Mar 2025, 12:34 p.m. | Last Modified: 3 Mar 2025, 12:34 p.m.
Panel Version: 8.109
Not associated with phenotype in OMIM.
Apparently 2 causative variants in one case in novel (candidate) gene for intellectual disability (Najmabadi 2011 PMID 21937992).
Candidate ID gene (Grozeva 2015 PMID 26350204) as an ID candidate gene (Gilessen 2014 PMID 24896178).
Created: 5 Mar 2018, 3:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
prenatal-onset growth impairment and developmental delay

Publications

Created: 5 Mar 2018, 3:27 p.m.

Panel version: 8.109

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:04 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Li-Takada-Miyake syndrome, OMIM:621212
  • Li-Takada-Miyake syndrome, MONDO:0978303
OMIM
610393
Clinvar variants
Variants in GON4L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GON4L were changed from prenatal-onset growth impairment and developmental delay to Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303

3 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GON4L were set to 21937992; 26350204; 24896178; 39500882

3 Mar 2025, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GON4L were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to prenatal-onset growth impairment and developmental delay

3 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gon4l has been classified as Amber List (Moderate Evidence).

26 Feb 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GON4L were set to 21937992

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GON4L was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GON4L was added to Intellectual disabilitypanel. Sources: Expert Review Red