Neurofibromatosis Type 1

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

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: formatting corrected
Created: 11 Oct 2017, 9:04 a.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Often tested in association with NF1 as known to cause a similar but milder phenotype
Created: 31 Oct 2016, 4:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Legius syndrome 611431

Publications

History Filter Activity

11 Oct 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SPRED1 were set to Legius syndrome, 611431

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SPRED1 were set to 17704776; 19366998

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

31 Oct 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

31 Oct 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

SPRED1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN

31 Oct 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SPRED1 was created by agardham