| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v2.52 | GNAS | Sarah Leigh reviewed gene: GNAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.52 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.51 | GNAS | Sarah Leigh Tag Q4_22_MOI tag was added to gene: GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.15 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | GNAS | Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28453643, 27991864, 28663568; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | GNAS | Ismaa Farooqi reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.21 | GNAS |
Ivone Leong Source Expert Review Green was added to GNAS. Source Expert list was added to GNAS. Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene GNAS were changed from to 27991864; 28663568; 28453643 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe early-onset obesity v1.15 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.14 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.13 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.12 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 to Congenital Obesity; Pseudohypoparathyroidism, 612463 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.11 | GNAS | Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity to Congenital Obesity; Pseudopseudohypoparathyroidism, 612463 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||