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Prepair 1000+

Gene: NLGN4X

Red List (low evidence)

NLGN4X (neuroligin 4, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000146938
EnsemblGeneIds (GRCh37): ENSG00000146938
OMIM: 300427, Gene2Phenotype
NLGN4X is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Upgraded to Amber on Mendeliome. However, many of the reported variants are multi-gene deletions and the reported phenotypes are highly variable, including individuals without ID.
Created: 6 Dec 2022, 5:21 a.m. | Last Modified: 6 Dec 2022, 5:21 a.m.
Panel Version: 1.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Red in Mendeliome. Not suitable for reproductive genetic carrier screening
ClinGen: Definitive for ID/Autism (2018) - Papers referenced mostly older than 2017 or as per Z's comment below

Associations studies and cytogenetic reports linking with ID/autism; some conflicting; evidence for SNVs causing ID is from two families pre-dating genomic testing era.
Created: 8 Jun 2022, 12:38 a.m. | Last Modified: 8 Jun 2022, 12:38 a.m.
Panel Version: 0.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked (MIM#300495)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked (MIM#300495)
OMIM
300427
Clinvar variants
Variants in NLGN4X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlgn4x has been classified as Red List (Low Evidence).

22 Jun 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NLGN4X were changed from Mental retardation, X-linked, 300495 (3) to Intellectual developmental disorder, X-linked (MIM#300495)

22 Jun 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NLGN4X were set to

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nlgn4x has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NLGN4X was added gene: NLGN4X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 Mental retardation, X-linked, 300495 (3)