This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is green on the RASopathies panel Version 1.14 and ID panel Version 1.123.Created: 18 Apr 2017, 1:39 p.m.
On the UKGTN Hereditary Cancers 82 Gene Panel.Created: 18 Apr 2017, 1:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Legius syndrome 611431
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Legius syndrome 611431
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Neurofibromatosis type 1 (GMS)
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SPRED1 was created by ellenmcdonagh
18 Apr 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SPRED1 was added to Multiple Tumourspanel. Sources: UKGTN