Monogenic short stature
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
Ivone Leong (Genomics England Curator)
After clinical discussion it was decided that SPRED1 is demoted to red status as the growth phenotype is not predominant and therefore not appropriate for this panel.Created: 1 Jul 2019, 2:35 p.m. | Last Modified: 11 Jul 2019, 12:55 p.m.
Panel Version: 0.60
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Added SPRED1 as an Amber gene awaiting further clinical discussion.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius Syndrome; Neurofibromatosis-like syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Legius Syndrome
- Neurofibromatosis-like 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
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Neurofibromatosis type 1 (GMS)
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Primary lymphoedema
- Intellectual disability
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: SPRED1 was added gene: SPRED1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRED1 were set to 19443465; 21548021; 21649642; 19366998; 17704776 Phenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome