RASopathies
Gene: SPRED1Comment 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius Syndrome
Phenotypes for gene: SPRED1 were changed from Legius Syndrome; Neurofibromatosis-like syndrome to Legius syndrome 611431
Publications for gene: SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021
This gene has been classified as Green List (High Evidence).
Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome
Phenotypes for SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome;
This gene has been classified as Green List (High Evidence).
Publications for SPRED1 were set to PMID: 17704776; 19366998; 19443465; 21649642; 21548021
Phenotypes for SPRED1 were set to Legius Syndrome
Mode of inheritance for SPRED1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
SPRED1 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
SPRED1All sources for gene: SPRED1 were removed
SPRED1 was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
SPRED1 was added to RASopathiespanel. Source: UKGTN
SPRED1 was created by ellenmcdonagh
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