Mosaic skin disorders - deep sequencing
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.
Panel Version: 2.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
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.Created: 31 Jul 2023, 10:25 a.m. | Last Modified: 31 Jul 2023, 10:25 a.m.
Panel Version: 2.10
Zornitza Stark (Australian Genomics)
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
Tom Cullup (Great Ormond Street Hospital)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Keratinocytic epidermal naevi (KENs)
- Naevoid acanthosis nigricans
- RAVEN (round and velvety epidermal naevus)
- Tags
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- None
- 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
- Panels with this gene
-
- Radial dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Differences in sex development
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: FGFR2. Tag Q3_23_NHS_review was removed from gene: FGFR2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to FGFR2. Source NHS GMS was added to FGFR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: FGFR2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FGFR2 were set to 9728990
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: FGFR2. Tag Q3_23_NHS_review tag was added to gene: FGFR2.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FGFR2 were changed from Epdermal naevi to Keratinocytic epidermal naevi (KENs); Naevoid acanthosis nigricans; RAVEN (round and velvety epidermal naevus)
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Catherine Snow (Genomics England)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