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This Panel is marked as Internal

Newborns main panel
Gene: GNAS

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

This phenotype is due to LoF variant on the maternal allele which we won't be able to distinguish.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Pseudohypoparathyroidism Ia

OMIM

Clinvar variants

Variants in GNAS

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GNAS. Added phenotypes Pseudohypoparathyroidism Ia for gene: GNAS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GNAS. Added phenotypes Pseudohypoparathyroidism Ia for gene: GNAS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudohypoparathyroidism Ia to Pseudohypoparathyroidism Ia

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GNAS. Added phenotypes Pseudohypoparathyroidism Ia for gene: GNAS Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to GNAS. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: GNAS was added gene: GNAS was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ia