Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: ADIPOR1

I don't know

Zhang (2016): Non-syndromic adRP. Het missense reported in one large family, with supporting functional studies.
Xu (2016): Syndromic RP. Hom frameshift reported. This variant has been reclassified as VUS (OMIM).

This gene has been reported with both recessive (PMID: 26662040) and dominant disease (PMID: 27655171), however, additional evidence is required to support gene disease association.

Created: 27 Mar 2020, 4:07 a.m. | Last Modified: 27 Mar 2020, 4:07 a.m.

Panel Version: 0.25

Mode of inheritance
Unknown

Publications

• PMID: 27655171
• 26662040

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

• 26662040
• 25736573
• 30254279
• 27655171