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  3. PRPF4
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Retinitis pigmentosa_Autosomal Dominant

Gene: PRPF4

Green List (high evidence)
PRPF4 (pre-mRNA processing factor 4)
EnsemblGeneIds (GRCh38): ENSG00000136875
EnsemblGeneIds (GRCh37): ENSG00000136875
OMIM: 607795, Gene2Phenotype
PRPF4 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Moderate by ClinGen Retina GCEP on 01/08/2024 - https://search.clinicalgenome.org/CCID:008333

Variants reported in six probands (missense variants and 5' UTR variants). Mechanism of disease is still not well understood however is expected to be loss of function.
Created: 4 Aug 2024, 11:43 p.m. | Last Modified: 4 Aug 2024, 11:43 p.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inherited retinal dystrophy MONDO:0019118

Publications

Created: 4 Aug 2024, 11:43 p.m.
Last Modified: 4 Aug 2024, 11:43 p.m.
Panel version: 0.57

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 16 Apr 2022, 5:49 a.m. | Last Modified: 16 Apr 2022, 5:49 a.m.
Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 70, MIM# 615922

Publications

Created: 16 Apr 2022, 5:49 a.m.
Last Modified: 16 Apr 2022, 5:49 a.m.
Panel version: 0.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 70, MIM# 615922
OMIM
607795
Clinvar variants
Variants in PRPF4
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: prpf4 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: PRPF4 were changed from Retinitis pigmentosa 70 to Retinitis pigmentosa 70, MIM# 615922

16 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPF4 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: PRPF4 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: PRPF4 was added gene: PRPF4 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRPF4 were set to Retinitis pigmentosa 70