Glaucoma (developmental)
Gene: NTF4EnsemblGeneIds (GRCh38): ENSG00000225950
EnsemblGeneIds (GRCh37): ENSG00000225950
OMIM: 162662, Gene2Phenotype
NTF4 is in 2 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
glaucoma gene, can't find any evidence that it is associated with structural eye disease - glaucoma seems adult-onsetCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GLAUCOMA 1, OPEN ANGLE, O; 613100
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). glaucoma gene, can't find any evidence that it is associated with structural eye disease - glaucoma seems adult-onsetCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GLAUCOMA 1, OPEN ANGLE, O, 613100
Mode of pathogenicity
Other - please provide details in the comments
Details
- Sources
-
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Glaucoma 1, open angle, 1O, 613100
- OMIM
- 162662
- Clinvar variants
- Variants in NTF4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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.
Added New Source
Eik Haraldsdottir (Genomics England)NTF4 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen