Mosaic skin disorders - deep sequencing
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
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius syndrome (611431)
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SPRED1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Legius syndrome
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Neurofibromatosis type 1 (GMS)
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Primary lymphoedema
- Intellectual disability
History Filter Activity
5 Dec 2019, Gel status: 3
Set publications
Catherine Snow (Genomics England)Publications for gene SPRED1 were changed from to 27423141
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SPRED1.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SPRED1 was added gene: SPRED1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPRED1 were set to Legius syndrome