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Renal tubulopathies v1.121 GNAS Eleanor Williams changed review comment from: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They author say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function; to: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They authors say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function
Renal tubulopathies v1.121 GNAS Eleanor Williams changed review comment from: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.; to: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.

They author say the clinical phenotype suggests a gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR), yet increased serum PTH concentrations indicative of impaired proximal tubular PTH1 receptor (PTH1R) function
Renal tubulopathies v1.121 GNAS Eleanor Williams Mode of inheritance for gene: GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Renal tubulopathies v1.120 GNAS Eleanor Williams Classified gene: GNAS as Amber List (moderate evidence)
Renal tubulopathies v1.120 GNAS Eleanor Williams Added comment: Comment on list classification: 2 cases reported in PMID: 30312418
Renal tubulopathies v1.120 GNAS Eleanor Williams Gene: gnas has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.82 GNAS Eleanor Williams commented on gene: GNAS: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.
Renal tubulopathies v1.79 GNAS Eleanor Williams Phenotypes for gene: GNAS were changed from to Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.
Renal tubulopathies v1.78 GNAS Eleanor Williams Publications for gene: GNAS were set to
Renal tubulopathies v1.16 GNAS Eleanor Williams reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: Biebermann et al 2018 PMID: 30312418; Phenotypes: Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Renal tubulopathies v1.15 GNAS Eleanor Williams gene: GNAS was added
gene: GNAS was added to Renal tubulopathies. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to