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  3. AIPL1
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Congenital nystagmus

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families in the original gene discovery paper, nystagmus is a feature.

Mono-allelic variants are associated with a milder phenotype, 'juvenile-onset RP'.
Created: 24 Oct 2021, 5:38 a.m. | Last Modified: 24 Oct 2021, 5:38 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 4, MIM# 604393

Publications

Created: 24 Oct 2021, 5:38 a.m.
Last Modified: 24 Oct 2021, 5:38 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 4, MIM# 604393
OMIM
604392
Clinvar variants
Variants in AIPL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2021, 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).

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AIPL1 were changed from to Leber congenital amaurosis 4, MIM# 604393

24 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AIPL1 were set to

24 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AIPL1 was added gene: AIPL1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: AIPL1 was set to