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  2. Retinitis pigmentosa_Autosomal Dominant
  3. PRPF31
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Retinitis pigmentosa_Autosomal Dominant

Gene: PRPF31

Green List (high evidence)
PRPF31 (pre-mRNA processing factor 31)
EnsemblGeneIds (GRCh38): ENSG00000105618
EnsemblGeneIds (GRCh37): ENSG00000105618
OMIM: 606419, Gene2Phenotype
PRPF31 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

well established RP gene with large-scale deletions and insertions also reported.
Created: 9 Aug 2021, 11:30 p.m. | Last Modified: 9 Aug 2021, 11:30 p.m.
Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 11, (MIM#600138),

Publications

Created: 9 Aug 2021, 11:30 p.m.
Last Modified: 9 Aug 2021, 11:30 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 11, 600138
Tags
SV/CNV
OMIM
606419
Clinvar variants
Variants in PRPF31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prpf31 has been classified as Green List (High Evidence).

10 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPF31 were set to

10 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRPF31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PRPF31.

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRPF31 was added gene: PRPF31 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRPF31 were set to Retinitis pigmentosa 11, 600138