Neurofibromatosis Type 1
Gene: GNASComment on mode of inheritance: As mentioned in the review, the phenotype of McCune Albright syndrome includes café-au-lait patches and is caused by post-zygotic variants leading to a somatic mosaic picture. The mode of inheritance is therefore best matched to monoallelic, however depending on the level of mosaicism in the tissue tested, the proportion of alleles with the variant could vary considerably (from 0-50%) and therefore the ability to detect it.Created: 11 Jul 2017, 4:08 p.m.
Mosaic post-zygotic somatic activating mutations in GNAS are known to cause McCune-Albright syndrome. This syndrome is associated with polyostotic fibrous dysplasia, cafe-au-lait patches and precocious puberty.Created: 31 Oct 2016, 4:50 p.m.
Mode of inheritance
Other
Phenotypes
McCune-Albright syndrome, 174800
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Some overlapping phenotypic features, as defined in the inclusion criteria, between Fanconi anaemia and Pseudohypoparathyroidism Ia.Created: 29 Jan 2016, 2:18 p.m.
Phenotypes
Pseudohypoparathyroidism Ia
Phenotypes for gene: GNAS were changed from McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168 to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Phenotypes for gene: GNAS were changed from McCune-Albright syndrome, 174800; Pseudohypoparathyroidism Ia to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Publications for gene: GNAS were set to 1944469,1594625
Mode of inheritance for GNAS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for GNAS were set to McCune-Albright syndrome, 174800; Pseudohypoparathyroidism Ia
Panel finalised 14th November 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
GNAS was added to Neurofibromatosis Type 1panel. Sources: UKGTN
GNAS was created by agardham