1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant
  3. PRPF6
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Dominant

Gene: PRPF6

Amber List (moderate evidence)
PRPF6 (pre-mRNA processing factor 6)
EnsemblGeneIds (GRCh38): ENSG00000101161
EnsemblGeneIds (GRCh37): ENSG00000101161
OMIM: 613979, Gene2Phenotype
PRPF6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported, some functional data.
Created: 16 Apr 2022, 5:42 a.m. | Last Modified: 16 Apr 2022, 5:42 a.m.
Panel Version: 0.37

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 60, MIM# 613983

Publications

Created: 16 Apr 2022, 5:42 a.m.
Last Modified: 16 Apr 2022, 5:42 a.m.
Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 60, MIM# 613983
OMIM
613979
Clinvar variants
Variants in PRPF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prpf6 has been classified as Amber List (Moderate Evidence).

16 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, MIM# 613983

16 Apr 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPF6 were set to

16 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRPF6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prpf6 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRPF6 was added gene: PRPF6 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRPF6 were set to Retinitis pigmentosa 60, 613983