Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: RP1L1

Green List (high evidence)

RP1L1 (RP1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000183638
EnsemblGeneIds (GRCh37): ENSG00000183638
OMIM: 608581, Gene2Phenotype
RP1L1 is in 3 panels

1 review

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple patients reported for both AD OMD and ARRP.

p.R45W is the most common pathogenic mutation that cause AD OMD, with reduced penetrance.
Created: 21 Sep 2020, 7:49 a.m. | Last Modified: 21 Sep 2020, 7:49 a.m.
Panel Version: 0.4528

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Occult macular dystrophy (MIM#613587) AD; Retinitis pigmentosa 88 (MIM#618826) AR

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Occult macular dystrophy (MIM#613587) AD
  • Retinitis pigmentosa 88 (MIM#618826) AR
OMIM
608581
Clinvar variants
Variants in RP1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rp1l1 has been classified as Green List (High Evidence).

21 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RP1L1 were changed from to Occult macular dystrophy (MIM#613587) AD; Retinitis pigmentosa 88 (MIM#618826) AR

21 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RP1L1 were set to

21 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RP1L1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RP1L1 was added gene: RP1L1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RP1L1 was set to Unknown