Genomics England
GMS Panels
Panels
Genes and Entities

SPRED1

sprouty related EVH1 domain containing 1
OMIM: 609291
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEGIUS SYNDROME 611431
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEGIUS SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius syndrome, 611431, LEGIUS SYNDROME
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Legius syndrome
Green
in Neurofibromatosis type 1 (GMS)
R-numbers: R222
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEGIUS SYNDROME, LGSS, Legius syndrome
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Legius syndrome 611431