GNA11

G protein subunit alpha 11
OMIM: 139313, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GNA11 in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.14 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Hypocalcemia, autosomal dominant 2, 615361 hypercalcemia, type II, 145981
Green GNA11 in Familial hyperparathyroidism or hypocalciuric hypercalcaemia Version 3.6 Latest signed off version: v3.2 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant 2, OMIM:615361 Hypocalciuric hypercalcemia, type II, OMIM:145981
Red GNA11 in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type II, 145981
Red GNA11 in Pigmentary skin disorders Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Extensive dermal melanocytosis Phakomatosis pigmentovascularis
Green GNA11 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis
No list GNA11 in Vascular skin disorders Version 1.63 Latest signed off version: v1.3 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis Tags curated_removed
Amber GNA11 in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Phenotypes Hypocalcemia, autosomal dominant 2 615361 Tags Q4_23_promote_green
Amber GNA11 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Congenital Hemangioma Tags mosaicism
Green GNA11 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 Expert Review Green DD-Gene2Phenotype Phenotypes Congenital Hemangioma Tags mosaicism
Green GNA11 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant 2 615361