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Mackenzie's Mission_Reproductive Carrier Screening

Gene: IL10RB

Green List (high evidence)

IL10RB (interleukin 10 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000243646
EnsemblGeneIds (GRCh37): ENSG00000243646
OMIM: 123889, Gene2Phenotype
IL10RB is in 9 panels

1 review

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Sufficient patients reported (note protein encoded by IL10RB is IL10R2)

19890111: 2 affected sibs with hom stop-gain.
22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype.

Severe phenotype.
Created: 29 Oct 2020, 1:25 a.m. | Last Modified: 29 Oct 2020, 1:26 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease 25, early onset, #MIM612657
OMIM
123889
Clinvar variants
Variants in IL10RB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: il10rb has been classified as Green List (High Evidence).

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: il10rb has been classified as Green List (High Evidence).

29 Oct 2020, Gel status: 0

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

Sarah Righetti (University of New South Wales)

gene: IL10RB was added gene: IL10RB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10RB were set to 22549091 Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657 Review for gene: IL10RB was set to GREEN