Cytopenias and congenital anaemias
Gene: BRCA1Comment when marking as ready: Amber at present. One report in humans in biallelic form.Created: 10 Mar 2017, 1:13 p.m.
Comment on publications: PMID: 28122244 - mice homozygous for a null Brca1 mutation in the embryonic hematopoietic system developed hematopoietic defects in early adulthood that included reduced hematopoietic stem cells. PMID: 26644450 - mouse model. PMID: 25472942 - one patient reported with biallelic mutations in BRCA1 with congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.Created: 1 Mar 2017, 4:50 p.m.
Comment on list classification: Unsure due to incidental findings.Created: 1 Mar 2017, 4:10 p.m.
Mode of inheritance
Unknown
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: BRCA1 were changed from Fanconi anemia to Fanconi anemia, complementation group S, OMIM:617883
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for BRCA1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for BRCA1 were set to 25472942; 28122244; 26644450;25472942
Publications for BRCA1 were set to 25472942; 28122244;26644450
Publications for BRCA1 were set to 25472942;28122244
This gene has been classified as Amber List (Moderate Evidence).
BRCA1 was created by LouiseD
BRCA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)