Limb disordersGene: BTRC
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.
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.
Ellen McDonagh: Comment on list classification
Gene: btrc has been classified as Amber List (Moderate Evidence).
Phenotypes for BTRC were set to Split-hand split-foot malformation 3
Publications for BTRC were set to 12913067; 29263051; 28777841; 28422522; 27600068; 23596994; 16691619
Mode of pathogenicity for BTRC was changed to Other - please provide details in the comments
This gene has been classified as Amber List (Moderate Evidence).
Publications for BTRC were set to 12913067; 29263051; 28777841; 28422522; 27600068; 23596994
Publications for BTRC were set to 12913067
This gene has been classified as Red List (Low Evidence).
London South East RGC GSTT was added to BTRC. Panel: Limb disorders
BTRC was added to Limb disorders panel. Sources: Viapath
BTRC was created by Ellen McDonagh