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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. SEMA4A
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: SEMA4A

Amber List (moderate evidence)
SEMA4A (semaphorin 4A)
EnsemblGeneIds (GRCh38): ENSG00000196189
EnsemblGeneIds (GRCh37): ENSG00000196189
OMIM: 607292, Gene2Phenotype
SEMA4A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Bi-allelic variants: two individuals with RP, and two with cone-rod dystrophy reported in PMID 16199541, none since.

Mono-allelic variants: p.Arg713Gln reported in 4 individuals in PMID 16199541, however note this variant is present in >10,000 heterozygotes in gnomad and 299 homozygotes and did not segregate with disease in PMID 28805479.
Created: 14 Oct 2020, 6:58 a.m. | Last Modified: 14 Oct 2020, 7 a.m.
Panel Version: 0.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 35, MIM# 610282

Publications

Created: 14 Oct 2020, 6:58 a.m.
Last Modified: 14 Oct 2020, 7 a.m.
Panel version: 0.80

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
OMIM
607292
Clinvar variants
Variants in SEMA4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema4a has been classified as Amber List (Moderate Evidence).

14 Oct 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA4A were set to

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema4a has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SEMA4A was added gene: SEMA4A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SEMA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282