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  3. OGFRL1
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Autoinflammatory disorders

Gene: OGFRL1

Amber List (moderate evidence)
OGFRL1 (opioid growth factor receptor like 1)
EnsemblGeneIds (GRCh38): ENSG00000119900
EnsemblGeneIds (GRCh37): ENSG00000119900
OGFRL1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Hannah Knight. Rating Amber, awaiting further cases. To date, a single publication (PMID: 38699440) has reported two unrelated cherubism families with homozygous variants in this gene.
Created: 3 Jun 2024, 1:51 p.m. | Last Modified: 3 Jun 2024, 1:51 p.m.
Panel Version: 2.3
Created: 3 Jun 2024, 1:51 p.m.
Last Modified: 3 Jun 2024, 1:51 p.m.
Panel version: 2.3

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 38699440 (2024) identified two different homozygous LOF mutations in two unrelated families with cherubism. Functional work carried out, but inconclusive - mouse model did not recapitulate human cherubism
Sources: Literature
Created: 15 May 2024, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cherubism

Publications

Created: 15 May 2024, 8:10 a.m.

Panel version: 2.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cherubism
Clinvar variants
Variants in OGFRL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ogfrl1 has been classified as Amber List (Moderate Evidence).

3 Jun 2024, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: OGFRL1 were set to PMID: 38699440

15 May 2024, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: OGFRL1 was added gene: OGFRL1 was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGFRL1 were set to PMID: 38699440 Phenotypes for gene: OGFRL1 were set to Cherubism Review for gene: OGFRL1 was set to AMBER