Genomics England
GMS Panels
Panels
Genes and Entities

NDP

NDP, norrin cystine knot growth factor
OMIM: 300658
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie Disease
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NORRIE DISEASE 310600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NORRIE DISEASE
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390, NORRIE DISEASE
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Eye Disorders
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Norrie disease, 310600, Exudative vitreoretinopathy 2, X-linked, 305390, Eye Disorders