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Retinal disorders

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 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to additional evidence now published.
Created: 29 Mar 2018, 3:27 p.m.
Comment on list classification: Additional two cases in one family reported in PMID:27764769, compound heterozygous for two variants not previously reported. PMID: 27842159 - a further 3 families reported with different variants.
Created: 29 Mar 2018, 3:26 p.m.

Ellen Thomas (Genomics England Curator)

Red List (low evidence)

Only 2 families so far in the literature; review at next iteration of panel.
Created: 3 Nov 2016, 12:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa 75, 617023
OMIM
615900
Clinvar variants
Variants in AGBL5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa; Retinitis pigmentosa 75 617023 to Retinitis pigmentosa 75, 617023

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AGBL5. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Mar 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AGBL5 were set to Retinitis pigmentosa; Retinitis pigmentosa 75 617023

29 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AGBL5 were set to 26720455; 26355662; 27764769; 27842159

3 Nov 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

AGBL5 was added to Posterior segment abnormalitiespanel. Sources: Other

3 Nov 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

AGBL5 was created by EllenThomas