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Prepair 1000+

Gene: AGBL5

Green List (high evidence)
AGBL5 (ATP/GTP binding protein like 5)
EnsemblGeneIds (GRCh38): ENSG00000084693
EnsemblGeneIds (GRCh37): ENSG00000084693
OMIM: 615900, Gene2Phenotype
AGBL5 is in 4 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration. Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision.
At least five unrelated families reported with AGBL5 variants. Onset of RP features within childhood years.
Created: 14 Oct 2024, 4:02 a.m. | Last Modified: 14 Oct 2024, 4:02 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 75 MIM#617023

Publications

Created: 14 Oct 2024, 4:02 a.m.
Last Modified: 14 Oct 2024, 4:02 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 75, 617023
OMIM
615900
Clinvar variants
Variants in AGBL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: agbl5 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa 75, 617023 (3), Autosomal recessive to Retinitis pigmentosa 75, 617023

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: AGBL5 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGBL5 was added gene: AGBL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive