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Structural eye disease
Gene: NTF4

NTF4 (neurotrophin 4)
EnsemblGeneIds (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)

Red List (low evidence)

glaucoma gene, can't find any evidence that it is associated with structural eye disease - glaucoma seems adult-onset
Created: 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

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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-onset
Created: 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

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

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Glaucoma 1, open angle, 1O, 613100

OMIM

162662

Clinvar variants

Variants in NTF4

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NTF4 were changed from Glaucoma 1, open angle, 1O, 613100; GLAUCOMA 1, OPEN ANGLE, O, 613100 to Glaucoma 1, open angle, 1O, 613100

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NTF4. Mode of inheritance for gene NTF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes GLAUCOMA 1, OPEN ANGLE, O, 613100 for gene: NTF4

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NTF4 was added gene: NTF4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NTF4 was set to Phenotypes for gene: NTF4 were set to Glaucoma 1, open angle, 1O, 613100

Structural eye disease Gene: NTF4