RASopathies
Gene: SPRED1EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Comment from Reviewer: Loss of function mutations in SPRED1 cause Legius syndrome. No strong associations with Noonan syndrome or other 'RASopathies'. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:22 p.m.Created: 5 Feb 2016, 12:51 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 8:34 a.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius Syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Legius syndrome 611431
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Neurofibromatosis type 1 (GMS)
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal anomalies
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SPRED1 were changed from Legius Syndrome; Neurofibromatosis-like syndrome to Legius syndrome 611431
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome;
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SPRED1 were set to Legius Syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SPRED1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene SPRED1 were set to Legius Syndrome ;Legius syndrome;Legius syndrome ;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)SPRED1 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)SPRED1All sources for gene: SPRED1 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)SPRED1 was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)SPRED1 was added to RASopathiespanel. Source: UKGTN
Created
Ellen McDonagh (Genomics England Curator)SPRED1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SPRED1 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing