1. Genes and Genomic Entities
  2. GNAI3

GNAI3

G protein subunit alpha i3
OMIM: 139370, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red GNAI3 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ocular Albinism
Red GNAI3 in Ocular and oculo-cutaneous albinism


Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Auriculocondylar syndrome 1 602483
Green GNAI3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 602483
  • Causes AURICULOCONDYLAR syndrome with microtia
  • syndromic features
  • Auriculocondylar syndrome 1
  • Dysgnathia complex
Red GNAI3 in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Auriculocondylar syndrome 1 602483
  • Ocular Albinism
Green GNAI3 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AURICULOCONDYLAR SYNDROME
Green GNAI3 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AURICULOCONDYLAR SYNDROME 602483
    Red GNAI3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cleft palate
    Red GNAI3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Auriculocondylar syndrome 1, 602483
    Green GNAI3 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Auriculocondylar syndrome 1, 602483