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  2. Anophthalmia_Microphthalmia_Coloboma
  3. NDP
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Anophthalmia_Microphthalmia_Coloboma

Gene: NDP

Green List (high evidence)
NDP (NDP, norrin cystine knot growth factor)
EnsemblGeneIds (GRCh38): ENSG00000124479
EnsemblGeneIds (GRCh37): ENSG00000124479
OMIM: 300658, Gene2Phenotype
NDP is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, microphthalmia is a feature.
Created: 28 Dec 2020, 9:41 p.m. | Last Modified: 28 Dec 2020, 9:41 p.m.
Panel Version: 0.200

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

Phenotypes
Norrie disease, MIM# 310600

Created: 28 Dec 2020, 9:41 p.m.
Last Modified: 28 Dec 2020, 9:41 p.m.
Panel version: 0.200

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Norrie disease, MIM# 310600
OMIM
300658
Clinvar variants
Variants in NDP
Penetrance
None
Panels with this gene

History Filter Activity

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndp has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDP were changed from to Norrie disease, MIM# 310600

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDP was added gene: NDP was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDP was set to Unknown