Neurofibromatosis type 1 (GMS)
Gene: SPRED1
SPRED1 (sprouty related EVH1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 13 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #611431) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:22 a.m. | Last Modified: 29 Dec 2025, 11:22 a.m.
Panel Version: 1.3
SPRED1 has been added to the panel for R222 Neurofibromatosis type 1 with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:59 p.m. | Last Modified: 30 Jun 2023, 2:59 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Legius syndrome, OMIM:611431
- Legius syndrome, MONDO:0012669
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Neurofibromatosis type 1 (GMS)
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Primary lymphoedema
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SPRED1 were changed from to Legius syndrome, OMIM:611431; Legius syndrome, MONDO:0012669
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SPRED1 was added gene: SPRED1 was added to Neurofibromatosis type 1 (GMS). Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown