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DDG2P

Gene: GON4L

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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, 8:44 p.m. | Last Modified: 18 Dec 2025, 8:44 p.m.
Panel Version: 6.11
The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:21937992).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Li-Takada-Miyake syndrome, OMIM:621212
  • Li-Takada-Miyake syndrome, MONDO:0978303
OMIM
610393
Clinvar variants
Variants in GON4L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: GON4L were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: GON4L was added gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON4L were set to 21937992 Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION