1. Panels
  2. Retinitis pigmentosa_Autosomal Dominant
  3. ADIPOR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Dominant

Gene: ADIPOR1

Amber List (moderate evidence)
ADIPOR1 (adiponectin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000159346
EnsemblGeneIds (GRCh37): ENSG00000159346
OMIM: 607945, Gene2Phenotype
ADIPOR1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Additional cases required to validate the association and confirm the inheritance patterns.
Created: 7 Feb 2020, 9:05 p.m. | Last Modified: 7 Feb 2020, 9:05 p.m.
Panel Version: 0.13
A homozygous frameshift has been I identified in a single case with syndromic retinitis pigmentosa (other features include mental retardation and mostly truncal obesity). A heterozygous missense (Y310C) co-segregates in a single family with adRP, and was confirmed to affect protein folding and its subcellular localization in vitro. Both AdipoR1 knockout mice and zebrafish have retinal degeneration.
Created: 7 Feb 2020, 9:04 p.m. | Last Modified: 7 Feb 2020, 9:04 p.m.
Panel Version: 0.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Syndromic retinitis pigmentosa; non-syndromic retinitis pigmentosa

Publications

Created: 7 Feb 2020, 9:04 p.m.
Last Modified: 7 Feb 2020, 9:04 p.m.
Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
OMIM
607945
Clinvar variants
Variants in ADIPOR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADIPOR1 was added gene: ADIPOR1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171 Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa