NLGN3

neuroligin 3
OMIM: 300336, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NLGN3 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.250

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425

Green NLGN3 in Mendeliome


Version 1.4851

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425

Green NLGN3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425

Amber NLGN3 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.226

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425
  • hypogonadotropic hypogonadism MONDO:0018555

Red NLGN3 in Additional findings_Paediatric


Level 2: Screening
Version 0.280

0 reviews Unknown
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Autism

Red NLGN3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.148

0 reviews Unknown
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Autism

Amber NLGN3 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.137

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked complex neurodevelopmental disorder MONDO:0100148
  • {Autism susceptibility, X-linked 1} - MIM#300425
  • Hypogonadotropic hypogonadism MONDO:0018555