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  3. BRCA1
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Growth failure

Gene: BRCA1

Green List (high evidence)
BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families with bi-allelic variants reported and FA phenotype. Short stature is a feature.
Sources: Expert list
Created: 20 Aug 2021, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group S, MIM# 617883

Publications

Created: 20 Aug 2021, 6:20 a.m.

Panel version: 0.259

History Filter Activity

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brca1 has been classified as Green List (High Evidence).

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brca1 has been classified as Green List (High Evidence).

20 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRCA1 was added gene: BRCA1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865 Phenotypes for gene: BRCA1 were set to Fanconi anaemia, complementation group S, MIM# 617883 Review for gene: BRCA1 was set to GREEN