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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 17 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cataract is a feature of several GNAS-related disorders.
Created: 7 Jan 2022, 12:46 a.m. | Last Modified: 7 Jan 2022, 12:46 a.m.
Panel Version: 0.1926

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Pseudohypoparathyroidism Ia, MIM# 103580

Created: 7 Jan 2022, 12:46 a.m.
Last Modified: 7 Jan 2022, 12:46 a.m.
Panel version: 0.1926

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The gene is known to be imprinted, can be paternally, maternally or biallelically expressed, depending on the transcript and tissue (OMIM). PhP-Ia, Ib and Ic are maternally inherited (paternal allele is imprinted), whereas PPHP and POH/OC are paternally inherited (maternal allele is imprinted) (Haldeman-Englert 2017 GeneReviews).
Created: 30 Jan 2020, 11:49 p.m. | Last Modified: 30 Jan 2020, 11:49 p.m.
Panel Version: 0.1795

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
1. ACTH-independent macronodular adrenal hyperplasia (219080) Somatic Mutations; 2. McCune-Albright syndrome, somatic, mosaic (174800); 3. Osseous heteroplasia, progressive (166350) AD; 4. Pituitary adenoma 3, multiple types, somatic (617686); 5. Pseudohypoparathyroidism Ia (103580) AD; 6. Pseudohypoparathyroidism Ib (603233) AD; 7. Pseudohypoparathyroidism Ic (612462) AD; 8. Pseudopseudohypoparathyroidism (612463) AD

Publications

Created: 30 Jan 2020, 11:49 p.m.
Last Modified: 30 Jan 2020, 11:49 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1795

History Filter Activity

7 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnas has been classified as Green List (High Evidence).

7 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA to Pseudohypoparathyroidism Ia, MIM# 103580

7 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNAS were set to

7 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAS was added gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA