Retinitis pigmentosa_Autosomal Recessive/X-linked

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 75 617023
OMIM
615900
Clinvar variants
Variants in AGBL5
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AGBL5 was added gene: AGBL5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,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