Autism
Gene: NLGN4XEnsemblGeneIds (GRCh38): ENSG00000146938
EnsemblGeneIds (GRCh37): ENSG00000146938
OMIM: 300427, Gene2Phenotype
NLGN4X is in 7 panels
3 reviews
Elena Savva (Victorian Clinical Genetics Services)
Ongoing discussions and presented at ClinGen - decision made to upgrade this gene to green on the autism panelCreated: 14 Mar 2023, 11:10 p.m. | Last Modified: 14 Mar 2023, 11:10 p.m.
Panel Version: 0.188
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Definitive assessment by ClinGen noted, as well as 'limited' assessments by G2P and Genomics England. Many of the variants are multi-gene deletions; phenotypes are not well delineated, with several individuals not having ID.Created: 6 Dec 2022, 4:54 a.m. | Last Modified: 6 Dec 2022, 4:54 a.m.
Panel Version: 0.186
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked - MIM#300495
Krithika Murali (Victorian Clinical Genetics Services)
ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes.
Clinvar P/LP SNV's identified through clinical testing entries reviewed:
c.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism
c.625+1G>A - no disease assertion provided (2022 entry)
c.334dup (p.Gln112fs) - no clinical information
c.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.
Decipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID.
Sources: Expert listCreated: 6 Dec 2022, 1:16 a.m.
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
Intellectual developmental disorder, X-linked - MIM#300495
Publications
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
- Expert list
- 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
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: nlgn4x has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: NLGN4X was added gene: NLGN4X was added to Autism. Sources: Expert list Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374 Phenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495 Review for gene: NLGN4X was set to GREEN