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Newborns main panel

Gene: IL10RB

Green List (high evidence)
IL10RB (interleukin 10 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000243646
EnsemblGeneIds (GRCh37): ENSG00000243646
OMIM: 123889, Gene2Phenotype
IL10RB is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
7 digenic IL10RA/IL10RA cases - adjust analysis algorithm in clinical team spreadsheet. However, discussed with clinical team and we will not be doing digenic inheritance.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.
Panel Version: 0.41

Publications

Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 25
OMIM
123889
Clinvar variants
Variants in IL10RB
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Inflammatory bowel disease 25 for gene: IL10RB

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IL10RB. Added phenotypes Inflammatory bowel disease 25 for gene: IL10RB Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IL10RB. Added phenotypes Inflammatory bowel disease 25 for gene: IL10RB Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IL10RB. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Inflammatory bowel disease 25 for gene: IL10RB

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IL10RB was added gene: IL10RB was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal