Structural eye disease
Gene: C1QTNF5

C1QTNF5 (C1q and TNF related 5)
EnsemblGeneIds (GRCh38): ENSG00000223953
EnsemblGeneIds (GRCh37): ENSG00000223953
OMIM: 608752, Gene2Phenotype
C1QTNF5 is in 3 panels

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal degeneration, late-onset, autosomal dominant; 605670

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). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal degeneration, late-onset, autosomal dominant, 605670

Variants in this GENE are reported as part of current diagnostic practice

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

Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinal degeneration, late-onset, autosomal dominant, 605670
Eye Disorders

OMIM

608752

Clinvar variants

Variants in C1QTNF5

Penetrance

None

Panels with this gene

History Filter Activity

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 C1QTNF5. Mode of inheritance for gene C1QTNF5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinal degeneration, late-onset, autosomal dominant, 605670 for gene: C1QTNF5

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: C1QTNF5 was added gene: C1QTNF5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: C1QTNF5 was set to Phenotypes for gene: C1QTNF5 were set to Eye Disorders

Structural eye disease Gene: C1QTNF5