GNAQ

G protein subunit alpha q
OMIM: 600998, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GNAQ in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Green GNAQ in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Tags somatic
Amber GNAQ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Tags somatic
Red GNAQ in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Red Expert list Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Red GNAQ in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	Not set	Sources Genomics England PanelApp Expert Review Red Phenotypes Cerebral diseases of vascular origin with epilepsy Capillary malformations, congenital, 1, somatic, mosaic, 163000
Green GNAQ in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Green Expert list Expert list Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Green GNAQ in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Extensive dermal melanocytosis Sturge Weber syndrome Phakomatosis pigmentovascularis Tags somatic
Red GNAQ in Fetal anomalies Version 1.255	review	Other	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Sturge-Weber syndrome, somatic, mosaic, MIM#185300