GNAS Chromosome 20

GNAS complex locus

206 variants 206 Health Risk

Upload your DNA to see your personal genotypes for variants in GNAS.

What This Gene Does

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

Gene Info

Gene Group

"Granins|G protein subunits alpha, group s"

Locus Type

gene with protein product

Location

20q13.32

Ensembl

ENSG00000087460

Associated Conditions (32)

GNAS-related disorder

Pseudohypoparathyroidism

Pseudopseudohypoparathyroidism

Pseudohypoparathyroidism type I A

Inborn genetic diseases

PSEUDOHYPOPARATHYROIDISM

TYPE IA

WITH TESTOTOXICOSIS

8 conditions

Pseudohypoparathyroidism type 1B

Progressive osseous heteroplasia

Pseudohypoparathyroidism type 1C

Albright hereditary osteodystrophy

pseudohypoparathyroidism

pseudopseudohypoparathyroidism

acrodysostosis and osteoma cutis

Malignant tumor of esophagus

Familial cancer of breast

McCune-Albright syndrome

Intellectual disability

+12 more conditions

Key Variants

RS111796234

Conflicting classifications of pathogenicity

Health Risk

RS1135401777

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism

Health Risk

RS11554274

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A

Health Risk

RS1272546759

Conflicting classifications of pathogenicity

Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism

Health Risk

RS137854535

Conflicting classifications of pathogenicity

Pseudopseudohypoparathyroidism, Inborn genetic diseases, Pseudohypoparathyroidism type I A

Health Risk

RS137854537

Conflicting classifications of pathogenicity

PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS

Health Risk

RS1446835451

Conflicting classifications of pathogenicity

Health Risk

RS146581290

Conflicting classifications of pathogenicity

Health Risk

RS1555889031

Conflicting classifications of pathogenicity

Health Risk

RS1569027992

Conflicting classifications of pathogenicity

8 conditions, 8 conditions

Health Risk

RS1600976255

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1B

Health Risk

RS199499878

Conflicting classifications of pathogenicity

Health Risk

All Variants (206)

RSID	Category	Clinical Significance	Conditions
RS2145916852	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1B
RS2146005656	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146006354	Health Risk	Likely pathogenic	Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146179050	Health Risk	Likely pathogenic	GNAS-related disorder, Uterine corpus endometrial carcinoma, GNAS-related disorder
RS2146182069	Health Risk	Likely pathogenic	—
RS2146182293	Health Risk	Likely pathogenic	Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146183586	Health Risk	Likely pathogenic	Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2146184726	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type I A
RS2146209517	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146264846	Health Risk	Likely pathogenic	—
RS2146272908	Health Risk	Likely pathogenic	—
RS2146278333	Health Risk	Likely pathogenic	—
RS2146285803	Health Risk	Likely pathogenic	—
RS2146289554	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146290960	Health Risk	Likely pathogenic	Progressive osseous heteroplasia, Progressive osseous heteroplasia
RS2146304851	Health Risk	Likely pathogenic	Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS2516370196	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
RS2516371188	Health Risk	Likely pathogenic	—
RS2516801467	Health Risk	Likely pathogenic	GNAS-related disorder, GNAS-related disorder
RS2516902294	Health Risk	Likely pathogenic	See cases, See cases
RS2516973680	Health Risk	Likely pathogenic	McCune-Albright syndrome, McCune-Albright syndrome
RS2517081753	Health Risk	Likely pathogenic	—
RS2517085502	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2517085749	Health Risk	Likely pathogenic	GNAS-related disorder, GNAS-related disorder
RS2517227084	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2517241190	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2517248665	Health Risk	Likely pathogenic	GNAS-related disorder, GNAS-related disorder
RS2517259277	Health Risk	Likely pathogenic	—
RS2517261214	Health Risk	Likely pathogenic	Disorders of GNAS Inactivation, Disorders of GNAS Inactivation
RS2517269338	Health Risk	Likely pathogenic	Pseudohypoparathyroidism type I A, GNAS-related disorder, Pseudohypoparathyroidism type I A
RS2517284734	Health Risk	Likely pathogenic	GNAS-related disorder, GNAS-related disorder
RS2517295940	Health Risk	Likely pathogenic	GNAS-related disorder, GNAS-related disorder
RS767946220	Health Risk	Likely pathogenic	—
RS797044895	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1057518224	Health Risk	Pathogenic	—
RS1057518907	Health Risk	Pathogenic	8 conditions, Pseudohypoparathyroidism type 1B, 8 conditions
RS1064794045	Health Risk	Pathogenic	—
RS113029858	Health Risk	Pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS113877354	Health Risk	Pathogenic	—
RS11554273	Health Risk	Pathogenic	McCune-Albright syndrome, Sex cord-stromal tumor, Neoplasm
RS121913494	Health Risk	Pathogenic	Pituitary adenoma 3, multiple types, McCune-Albright syndrome
RS1254063262	Health Risk	Pathogenic	Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C
RS1267396058	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS137854530	Health Risk	Pathogenic	Pseudohypoparathyroidism, 8 conditions, Pseudohypoparathyroidism
RS137854531	Health Risk	Pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS137854532	Health Risk	Pathogenic	Pseudohypoparathyroidism, Hereditary spastic paraplegia 4, Pseudohypoparathyroidism type I A
RS137854533	Health Risk	Pathogenic	Pituitary adenoma 3, multiple types, Pituitary adenoma 3
RS137854534	Health Risk	Pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS137854536	Health Risk	Pathogenic	Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS137854538	Health Risk	Pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A, GNAS-related disorder

« Prev 1 2 3 4 5 Next »