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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Sources: Expert list
Created: 19 Apr 2020, 11:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 75, MIM# 617023

Publications

Details

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

History Filter Activity

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGBL5 was added gene: AGBL5 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGBL5 were set to 26720455; 26355662; 30925032 Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, MIM# 617023 Review for gene: AGBL5 was set to GREEN