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Intellectual disability syndromic and non-syndromic

Gene: GNAS

Green List (high evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels

1 review

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

History Filter Activity

31 Jan 2020, 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).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAS were changed from to Pseudohypoparathyroidism Ia (103580); Pseudohypoparathyroidism Ib (603233); Pseudohypoparathyroidism Ic (612462); Pseudopseudohypoparathyroidism (612463)

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAS was added gene: GNAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAS was set to Unknown