Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SEMA4A
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
Gene: sema4a has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA4A were set to
Gene: sema4a has been classified as Amber List (Moderate Evidence).
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