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Fetal anomalies

Gene: GNAS

Green List (high evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PSEUDOHYPOPARATHYROIDISM TYPE 1B, Confirmed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, Confirmed for ALBRIGHT HEREDITARY OSTEODYSTROPHY and Confirmed for GNAS HYPERFUNCTION.
Created: 11 Dec 2018, 9:05 a.m.
Mosaicism tag added based on original PAGE file which records Mosaic MOI for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA.
Created: 8 Nov 2018, 4:51 p.m.
In the original PAGE file, GNAS was listed as Imprinted for PSEUDOHYPOPARATHYROIDISM TYPE 1B and Mosaic for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA. In the original PAGE file, MOP listed as LOF for PSEUDOHYPOPARATHYROIDISM TYPE 1B and ALBRIGHT HEREDITARY OSTEODYSTROPHY, and listed as Activating for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA and GNAS HYPERFUNCTION.
Created: 8 Nov 2018, 4:45 p.m.

History Filter Activity

8 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: GNAS.

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes GNAS HYPERFUNCTION for gene: GNAS

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY for gene: GNAS

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA for gene: GNAS

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNAS was added gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B