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Retinal disorders

Gene: PRPF6

Green List (high evidence)

PRPF6 (pre-mRNA processing factor 6)
EnsemblGeneIds (GRCh38): ENSG00000101161
EnsemblGeneIds (GRCh37): ENSG00000101161
OMIM: 613979, Gene2Phenotype
PRPF6 is in 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is a third case published in PMID: 31456290; however, it is a publication on a big study and there is very little information about the family. p.(Phe941*) is found in 1 Israeli family with RP.
Created: 28 Jul 2022, 3:03 p.m. | Last Modified: 28 Jul 2022, 3:03 p.m.
Panel Version: 2.281

Publications

Zornitza Stark (Australian Genomics)

I don't know

Only two unrelated families reported, some functional data.
Created: 16 Apr 2022, 5:45 a.m. | Last Modified: 16 Apr 2022, 5:45 a.m.
Panel Version: 2.256

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 60, MIM# 613983

Publications

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 60, OMIM:613983
  • retinitis pigmentosa 60, MONDO:0013516
Tags
Q3_21_expert_review
OMIM
613979
Clinvar variants
Variants in PRPF6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, OMIM:613983; retinitis pigmentosa 60, MONDO:0013516

28 Jul 2022, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: PRPF6.

28 Jul 2022, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PRPF6 were set to

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRPF6. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PRPF6 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPF6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green