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Retinal disorders

Gene: RP1L1

Green List (high evidence)

RP1L1 (RP1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000183638
EnsemblGeneIds (GRCh37): ENSG00000183638
OMIM: 608581, Gene2Phenotype
RP1L1 is in 1 panel

3 reviews

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

I don't know

occult MD associated with hotspots, arRP associated with biallelic final exon truncations
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.
Created: 29 Aug 2019, 3:46 p.m. | Last Modified: 29 Aug 2019, 3:46 p.m.
Panel Version: 1.157

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Occult Macular Dystrophy
  • Occult macular dystrophy, 613587
OMIM
608581
Clinvar variants
Variants in RP1L1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Aug 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RP1L1. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Apr 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652

1 Apr 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RP1L1 were set to

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 RP1L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RP1L1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RP1L1 was created by ellenmcdonagh