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Glaucoma (developmental)

Gene: NDP

Red List (low evidence)
NDP (NDP, norrin cystine knot growth factor)
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 9 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Deml one family, hemizygous missense present in two affected brothers. Hinds coloboma in case with microdeletion; Jia reported microdeletion case with microphthalmia and corneal opacifications. Lev one case with corneal opacities, probably more Norrie disease cases with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Exudative vitreoretinopathy 2, X-linked; Norrie disease; 305390; 310600

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Deml one family, hemizygous missense present in two affected brothers. Hinds coloboma in case with microdeletion; Jia reported microdeletion case with microphthalmia and corneal opacifications. Lev one case with corneal opacities, probably more Norrie disease cases with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Exudative vitreoretinopathy 2, X-linked, 305390; Norrie disease, 310600

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.48

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

NDP was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory