DDG2P
Gene: GNAS
The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/).
The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469).
The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 9 a.m.
Panel Version: 3.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
Publications
Mosaicism tag added: In DD-G2P download, mosaic MOI listed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080.Created: 19 Nov 2018, 1:22 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, loss of function. Multiple MOIs in DD-G2P download: monoallelic for ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 and GNAS HYPERFUNCTION 139320, mosaic for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080, and imprinted for PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233. Uploaded MOI as MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown.Created: 19 Nov 2018, 11:29 a.m.
Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION 139320; PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233; ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
Publications for gene: GNAS were updated from 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 to 1944469; 10487696; 1505964; 11095461; 17299070; 2122458; 15592469; 9328353; 8702665; 11029463; 11073544; 15126527; 8072545; 18182455; 1594625
Rebecca Foulger: Original DDG2P rating: confirm
Tag mosaicism tag was added to gene: GNAS.
Added phenotypes GNAS HYPERFUNCTION 139320 for gene: GNAS
Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353
Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS
gene: GNAS was added gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 11029463; 15592469; 18182455 Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233