GNAI3

G protein subunit alpha i3
OMIM: 139370, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GNAI3 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.9

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483

Green GNAI3 in Mendeliome


Version 2.590

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483

Green GNAI3 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483

Green GNAI3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483

Green GNAI3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483

Red GNAI3 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Ocular albinism

Green GNAI3 in Fetal anomalies


Version 2.81

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483