Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Congenital hypothyroidism v2.13 GNAS Sarah Leigh changed review comment from: Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal allele. Therefore, the mode of inheritance for GNAS in this panel should be monoallelic maternally imprinted.; to: Pseudohypothyroidism Ia & Ic are caused by GNAS variants arising in the maternal alleles, therefore the paternal alleles are imprinted. In Pseudohypothyroidism Ib the imprinting of the maternal allele is disrupted by deletions in STX16. Therefore, the mode of inheritance for GNAS in this panel should be monoallelic, imprinted status unknown as either allele could be imprinted.
Congenital hypothyroidism v2.13 GNAS Sarah Leigh edited their review of gene: GNAS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital hypothyroidism v2.13 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:00 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911
Congenital hypothyroidism v2.12 GNAS Sarah Leigh Tag Q4_22_MOI tag was added to gene: GNAS.
Congenital hypothyroidism v2.12 GNAS Sarah Leigh reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Congenital hypothyroidism v2.12 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism) to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:00
Congenital hypothyroidism GNAS Rebecca Foulger classified GNAS as green
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS
Congenital hypothyroidism GNAS Rebecca Foulger edited their review of GNAS
Congenital hypothyroidism GNAS Rebecca Foulger commented on GNAS