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  3. AIPL1
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Glaucoma (developmental)

Gene: AIPL1

Red List (low 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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.75

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

AIPL1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory