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  3. PRPF3
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Retinitis pigmentosa_Autosomal Dominant

Gene: PRPF3

Green List (high evidence)
PRPF3 (pre-mRNA processing factor 3)
EnsemblGeneIds (GRCh38): ENSG00000117360
EnsemblGeneIds (GRCh37): ENSG00000117360
OMIM: 607301, Gene2Phenotype
PRPF3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 16 Apr 2022, 5:54 a.m. | Last Modified: 16 Apr 2022, 5:54 a.m.
Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 18, MIM# 601414

Publications

Created: 16 Apr 2022, 5:54 a.m.
Last Modified: 16 Apr 2022, 5:54 a.m.
Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 18, MIM# 601414
OMIM
607301
Clinvar variants
Variants in PRPF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prpf3 has been classified as Green List (High Evidence).

16 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRPF3 were changed from Retinitis pigmentosa 18 to Retinitis pigmentosa 18, MIM# 601414

16 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPF3 were set to

16 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRPF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRPF3 was added gene: PRPF3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRPF3 were set to Retinitis pigmentosa 18