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DDG2P

Gene: NLGN4X

Green List (high evidence)
NLGN4X (neuroligin 4, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000146938
EnsemblGeneIds (GRCh37): ENSG00000146938
OMIM: 300427, Gene2Phenotype
NLGN4X is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495 is limited. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; NLGN4X-related autism and intellectual disability, OMIM:300495

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 4.10

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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495
OMIM
300427
Clinvar variants
Variants in NLGN4X
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NLGN4X. Mode of inheritance for gene NLGN4X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Red List (low evidence) to Green List (high evidence)

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 Phenotypes

Rebecca Foulger (Genomics England curator)

gene: NLGN4X was added gene: NLGN4X was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495