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Mendeliome

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, 5:53 a.m. | Last Modified: 16 Apr 2022, 5:53 a.m.
Panel Version: 0.12980

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 18, MIM# 601414

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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 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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRPF3 was added gene: PRPF3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRPF3 was set to Unknown