Mosaic skin disorders - deep sequencing
Gene: FGFR2Comment 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.Created: 31 Jul 2023, 10:25 a.m. | Last Modified: 31 Jul 2023, 10:25 a.m.
Panel Version: 2.10
Multiple reports of somatic variants causing skin manifestations.Created: 18 Feb 2021, 8:07 a.m. | Last Modified: 18 Feb 2021, 8:07 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Keratinocytic epidermal naevi
Publications
Sufficient evidence now to promote to greenCreated: 3 May 2023, 2:32 p.m. | Last Modified: 3 May 2023, 2:32 p.m.
Panel Version: 2.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Keratinocytic epidermal naevi (KENs); naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)
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
Tag somatic tag was added to gene: FGFR2.
Publications for gene: FGFR2 were set to 9728990
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
Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: FGFR2. Tag Q3_23_NHS_review tag was added to gene: FGFR2.
Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi (KENs); Naevoid acanthosis nigricans; RAVEN (round and velvety epidermal naevus)
Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
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