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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. AIPL1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

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 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Retina GCEp on 02/02/2023 - https://search.clinicalgenome.org/CCID:004084
Created: 6 May 2024, 1:25 a.m. | Last Modified: 6 May 2024, 1:25 a.m.
Panel Version: 0.145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AIPL1-related retinopathy (MONDO:0100438)

Publications

  • https://search.clinicalgenome.org/CCID:004084

Created: 6 May 2024, 1:25 a.m.
Last Modified: 6 May 2024, 1:25 a.m.
Panel version: 0.145

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • AIPL1-related retinopathy (MONDO:0100438)
OMIM
604392
Clinvar variants
Variants in AIPL1
Penetrance
None
Publications
  • https://search.clinicalgenome.org/CCID:004084
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aipl1 has been classified as Green List (High Evidence).

7 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AIPL1 were changed from Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy to AIPL1-related retinopathy (MONDO:0100438)

7 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIPL1 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AIPL1 was added gene: AIPL1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4; Cone-rod dystrophy