Genomics England
GMS Panels
Panels
Genes and Entities

GNA11

G protein subunit alpha 11
OMIM: 139313
PanelMode of inheritanceDetails
4 panels
Green
in Familial hyperparathyroidism or hypocalciuric hypercalcaemia
R-numbers: R151
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypocalcemia, autosomal dominant 2, OMIM:615361, Hypocalciuric hypercalcemia, type II, OMIM:145981
Green
in Familial hypoparathyroidism
R-numbers: R153
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalcemia, autosomal dominant 2, 615361, hypercalcemia, type II, 145981
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentovascularis, Extensive dermal melanocytosis
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalcemia, autosomal dominant 2 615361