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| Mosaic skin disorders - deep sequencing v2.12 | FGFR2 | Arina Puzriakova Tag somatic tag was added to gene: FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.12 | FGFR2 | Arina Puzriakova Publications for gene: FGFR2 were set to 9728990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.11 | FGFR2 | Arina Puzriakova Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.10 | FGFR2 | Arina Puzriakova Classified gene: FGFR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.10 | FGFR2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update. FGFR2 is associated with multiple phenotypes but mosaic somatic variants have been found in more than 10 unrelated individuals in literature with nevoid skin disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.10 | FGFR2 | Arina Puzriakova Gene: fgfr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.9 | FGFR2 |
Arina Puzriakova Tag Q3_23_promote_green tag was added to gene: FGFR2. Tag Q3_23_NHS_review tag was added to gene: FGFR2. |
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| Mosaic skin disorders - deep sequencing v2.9 | FGFR2 | Arina Puzriakova Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi (KENs); Naevoid acanthosis nigricans; RAVEN (round and velvety epidermal naevus) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | FGFR2 | Tom Cullup edited their review of gene: FGFR2: Added comment: Sufficient evidence now to promote to green; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 31937562, 30580445, 30117157; Changed phenotypes to: Keratinocytic epidermal naevi (KENs), naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v1.5 | FGFR2 | Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937562, 30580445; Phenotypes: Keratinocytic epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.17 | FGFR2 | Catherine Snow Classified gene: FGFR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.17 | FGFR2 | Catherine Snow Gene: fgfr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.16 | FGFR2 | Tom Cullup reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 9728990; Phenotypes: Epdermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.14 | FGFR2 |
Catherine Snow gene: FGFR2 was added gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR2 were set to 9728990 Phenotypes for gene: FGFR2 were set to Epdermal naevi |
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