Primary lymphoedema
Gene: SPRED1EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:52 p.m. | Last Modified: 27 Jun 2019, 3:52 p.m.
Panel Version: 1.80
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/).Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Legius syndrome 611431
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Legius syndrome 611431
- OMIM
- 609291
- Clinvar variants
- Variants in SPRED1
- Penetrance
- None
- 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 publications
Sarah Leigh (Genomics England Curator)Publications for gene: SPRED1 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spred1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SPRED1 was added gene: SPRED1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPRED1 were set to Legius syndrome 611431