RASopathies

Gene: SPRED1

Green List (high evidence)

SPRED1 (sprouty related EVH1 domain containing 1)
EnsemblGeneIds (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)

Green List (high evidence)

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

History Filter Activity

19 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SPRED1 were changed from Legius Syndrome; Neurofibromatosis-like syndrome to Legius syndrome 611431

19 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome;

5 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Feb 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021

5 Feb 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SPRED1 were set to Legius Syndrome

5 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SPRED1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 3

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

2 Feb 2016, Gel status: 3

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

2 Feb 2016, Gel status: 4

clearsources

Ellen McDonagh (Genomics England Curator)

SPRED1All sources for gene: SPRED1 were removed

18 Nov 2015, Gel status: 5

Added New Source

Ellen McDonagh (Genomics England Curator)

SPRED1 was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SPRED1 was added to RASopathiespanel. Source: UKGTN

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SPRED1 was created by ellenmcdonagh

18 Nov 2015, Gel status: 4

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