Structural eye disease
Gene: SEMA4A

SEMA4A (semaphorin 4A)
EnsemblGeneIds (GRCh38): ENSG00000196189
EnsemblGeneIds (GRCh37): ENSG00000196189
OMIM: 607292, Gene2Phenotype
SEMA4A 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 35; Cone-rod dystrophy 10; 610282; 610283

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 35, 610282; Cone-rod dystrophy 10, 610283

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

Panel version: 0.48

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 35, 610282
Cone-rod dystrophy 10, 610283
Eye Disorders

OMIM

607292

Clinvar variants

Variants in SEMA4A

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 SEMA4A. Mode of inheritance for gene SEMA4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282 for gene: SEMA4A

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SEMA4A was added gene: SEMA4A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SEMA4A was set to Phenotypes for gene: SEMA4A were set to Eye Disorders

Structural eye disease Gene: SEMA4A