Hydrocephalus
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Note specific PRO252ARG mutationCreated: 30 May 2017, 8:25 a.m.
Recurrent PRO252ARG mutation associated with this phenotype. Recommended as a relevant phenotype by Dr. Louise Wilson, Consultant Clinical GeneticistCreated: 30 May 2017, 8:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pfeiffer syndrome 101600
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Pfeiffer syndrome, OMIM:101600
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Limb disorders
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
- Clefting
- Hydrocephalus
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypophosphataemia or rickets
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FGFR1 were changed from Pfeiffer syndrome 101600 to Pfeiffer syndrome, OMIM:101600
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FGFR1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)FGFR1 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)FGFR1 was created by helen.brittain