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Limb disorders

Gene: BTRC

Amber List (moderate evidence)

BTRC (beta-transducin repeat containing E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000166167
EnsemblGeneIds (GRCh37): ENSG00000166167
OMIM: 603482, Gene2Phenotype
BTRC is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Review of literature in October 2018 - no new publications. So keeping rating as Amber.
Created: 17 Oct 2018, 3:06 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 16691619 - use different techniques to narrow down the SHFM3 (10q24) to a minimal 325 kb duplication containing two genes BTRC and POLL. Expression analysis of 13 candidate genes within and flanking the duplicated region shows that BTRC (present in three copies) and SUFU (present in two copies) are overexpressed in SHFM3 patients compared to controls.
Created: 5 Apr 2018, 9:55 a.m.
Comment on mode of pathogenicity: Microduplications reported, not SNVs within this gene, in patients with split hand-split foot malformation.
Created: 5 Apr 2018, 9:51 a.m.
Comment on publications: PMID: 29263051 - two Chinese patients with Split hand/foot malformation with a 534kb microduplication at 10q24 encompassing TLX1, LBX1, BTRC and POLL, and a 600kb duplication with TLX1, LBX1, BTRC, POLL, and FBXW4 located. PMID: 28777841 (article in Chinese, abstract available in English) - 3 families with Split hand/foot malformationMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. PMID: 27600068 - A 514 kb gain at 10q24.31-q24.32 (chr10:102,962,134-103,476,346, hg19) was identified using 6.0 Single nucleotide polymorphism (SNP) microarray, resulting in the duplication of nine genes, including BTRC and FBXW4. A detailed systematic review of literature and mapping of breakpoints using microarray data from all reported cases in PubMed and DECIPHER were conducted, and exon 1 of BTRC gene was identified as the critical region responsible for the SHFM3 phenotype.
Created: 5 Apr 2018, 9:49 a.m.
Comment on list classification: Not associated with a disease in OMIM or Gene2Phenotype.
Created: 5 Apr 2018, 9:41 a.m.

Details

Sources
  • Expert Review Amber
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Split-hand split-foot malformation 3
Tags
cnv microduplication
OMIM
603482
Clinvar variants
Variants in BTRC
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

17 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

5 Apr 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BTRC were set to Split-hand split-foot malformation 3

5 Apr 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BTRC were set to 12913067; 29263051; 28777841; 28422522; 27600068; 23596994; 16691619

5 Apr 2018, Gel status: 2

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for BTRC was changed to Other - please provide details in the comments

5 Apr 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).

5 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BTRC were set to 12913067; 29263051; 28777841; 28422522; 27600068; 23596994

5 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BTRC were set to 12913067

5 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to BTRC. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BTRC was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BTRC was created by Ellen McDonagh