Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: AIPL1

Green List (high evidence)

AIPL1 (aryl hydrocarbon receptor interacting protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000129221
EnsemblGeneIds (GRCh37): ENSG00000129221
OMIM: 604392, Gene2Phenotype
AIPL1 is in 12 panels

3 reviews

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

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 4

Variants in this GENE are reported as part of current diagnostic practice

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, 8:03 a.m.
UKGTN source has Cone-rod dystrophy and Retinitis pigmentosa, juvenile as autosomal dominant mode of inheritance, Leber congenital amaurosis 4 as autosomal recessive mode of inheritance.
Created: 26 Apr 2016, 12:38 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 15 Mar 2016, 10:43 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy (AD)
  • Leber congenital amaurosis 4 (AR)
  • Retinitis pigmentosa, juvenile (AD)
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis
  • Leber congenital amaurosis 4, 604393
  • Retinitis pigmentosa, juvenile, 604393
  • Cone-rod dystrophy, 604393
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
OMIM
604392
Clinvar variants
Variants in AIPL1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AIPL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 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).

15 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AIPL1 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Cone-rod dystrophy (AD); Leber congenital amaurosis 4 (AR); Retinitis pigmentosa, juvenile (AD); Leber Congenital Amaurosis; Leber congenital amaurosis; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa

15 Mar 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AIPL1 were set to

15 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AIPL1 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

AIPL1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AIPL1 was created by ellenmcdonagh