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  3. GNAS
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Craniosynostosis

Gene: GNAS

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Craniosynostosis is a rare complication of pseudohyoparathyroidism, a small number of published cases.
Sources: Expert list
Created: 3 Jul 2020, 3:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoparathyroidism type 1a, MIM# 103580; Craniosynostosis

Publications

Created: 3 Jul 2020, 3:29 a.m.

Panel version: 0.95

History Filter Activity

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnas has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnas has been classified as Amber List (Moderate Evidence).

3 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAS was added gene: GNAS was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAS were set to 19530187; 26340332; 26267576 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism type 1a, MIM# 103580; Craniosynostosis Review for gene: GNAS was set to AMBER