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Paediatric pseudo-obstruction syndrome

Gene: BCR

Red List (low evidence)
BCR (BCR, RhoGEF and GTPase activating protein)
EnsemblGeneIds (GRCh38): ENSG00000186716
EnsemblGeneIds (GRCh37): ENSG00000186716
OMIM: 151410, Gene2Phenotype
BCR is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Not associated with any relevant phenotype in OMIM or G2P. Only a single patient has been reported in literature (PMID: 34190380) with paediatric intestinal pseudo-obstruction and a heterozygous de novo variant (c.3072+1G>A). Bcr null mice did display growth retardation and impaired gastrointestinal motility but additional patients required prior to adding as diagnostic-grade.
Created: 20 Dec 2022, 4:41 p.m. | Last Modified: 20 Dec 2022, 4:41 p.m.
Panel Version: 0.17
Created: 20 Dec 2022, 4:41 p.m.
Last Modified: 20 Dec 2022, 4:41 p.m.
Panel version: 0.17

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Other primary PIPO with identified genetic mutations. Protein function: fusion protein with c-Abl tyrosine kinase.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Growth retardation and impaired gastrointestinal motility

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Paediatric intestinal pseudo-obstruction
OMIM
151410
Clinvar variants
Variants in BCR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: bcr has been classified as Red List (Low Evidence).

20 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BCR were changed from to Paediatric intestinal pseudo-obstruction

20 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: BCR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Dec 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: BCR were set to

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: BCR was added gene: BCR was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: BCR was set to