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Mosaic skin disorders - deep sequencing v3.33 GNAS Arina Puzriakova Deleted their comment
Mosaic skin disorders - deep sequencing v3.33 GNAS Arina Puzriakova Deleted their comment
Mosaic skin disorders - deep sequencing v3.33 GNAS Arina Puzriakova Deleted their comment
Mosaic skin disorders - deep sequencing v3.33 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Mosaic skin disorders - deep sequencing v3.32 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Mosaic skin disorders - deep sequencing v3.31 GNAS Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene.
Mosaic skin disorders - deep sequencing v3.30 GNAS Arina Puzriakova reviewed gene: GNAS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mosaic skin disorders - deep sequencing v3.29 GNAS Arina Puzriakova Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Mosaic skin disorders - deep sequencing v3.27 GNAS Eleanor Williams commented on gene: GNAS
Mosaic skin disorders - deep sequencing v1.24 GNAS Sarah Leigh Phenotypes for gene: GNAS were changed from McCune-Albright syndrome to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Mosaic skin disorders - deep sequencing v0.16 GNAS Tom Cullup reviewed gene: GNAS: Rating: GREEN; 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: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing v0.15 GNAS Catherine Snow Publications for gene GNAS were changed from to 12970318
Mosaic skin disorders - deep sequencing v0.7 GNAS Rebecca Foulger Source London North GLH was added to GNAS.
Mosaic skin disorders - deep sequencing v0.4 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mosaic skin disorders - deep sequencing v0.3 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to McCune-Albright syndrome