Neurofibromatosis Type 1
Gene: SPRED1EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: formatting correctedCreated: 11 Oct 2017, 9:04 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Legius syndrome, 611431
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Neurofibromatosis type 1 (GMS)
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Primary lymphoedema
- Intellectual disability
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPRED1 were set to Legius syndrome, 611431
Set publications
Alice Gardham (Genomics England)Publications for SPRED1 were set to 17704776; 19366998
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Alice Gardham (Genomics England)SPRED1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN
Created
Alice Gardham (Genomics England)SPRED1 was created by agardham