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  2. Structural eye disease
  3. AIPL1
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Structural eye disease

Gene: AIPL1

Amber List (moderate evidence)
AIPL1 (aryl hydrocarbon receptor interacting protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000129221
EnsemblGeneIds (GRCh37): ENSG00000129221
OMIM: 604392, Gene2Phenotype
AIPL1 is in 11 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Yucel-Yilmaz: one family with microphthalmia, otherwise many cases with Leber's Congenital Amaurosis
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy; Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile; 604393; 604393; 604393

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Yucel-Yilmaz: one family with microphthalmia, otherwise many cases with Leber's Congenital Amaurosis
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy; Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
  • Leber congenital amaurosis 4, 604393
  • Retinitis pigmentosa, juvenile
  • Eye Disorders
OMIM
604392
Clinvar variants
Variants in AIPL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to AIPL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AIPL1. Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1 Publications for gene AIPL1 were changed from to 25148430

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: AIPL1 was added gene: AIPL1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: AIPL1 was set to Phenotypes for gene: AIPL1 were set to Eye Disorders