1. Panels
  2. Confirmed Fanconi anaemia or Bloom syndrome
  3. RAD51
STRs in panel
Prev Next
Regions in panel
Prev Next

Confirmed Fanconi anaemia or Bloom syndrome

Gene: RAD51

Green List (high evidence)
RAD51 (RAD51 recombinase)
EnsemblGeneIds (GRCh38): ENSG00000051180
EnsemblGeneIds (GRCh37): ENSG00000051180
OMIM: 179617, Gene2Phenotype
RAD51 is in 11 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 8:11 a.m. | Last Modified: 1 Feb 2023, 8:11 a.m.
Panel Version: 1.18
Created: 1 Feb 2023, 8:11 a.m.
Last Modified: 1 Feb 2023, 8:11 a.m.
Panel version: 1.18

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with relevant phenotype and different de novo variants. Phenotype-gene relationship listed in OMIM (MIM# 617244).
Created: 13 Oct 2021, 4:05 p.m. | Last Modified: 13 Oct 2021, 4:05 p.m.
Panel Version: 1.13
Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with an atypical FA phonotype involving chromosomal instability without bone marrow failure or malignancies along with private heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene. Variants occurred de novo with a dominant negative effect. All three individuals presented with thumb and radial abnormalities, microcephaly, and DD/ID (third patient showed early DD but above average IQ by age 13); and two individuals also had growth retardation (probable in third case but not reported on) and hearing impairment.
Sources: Literature
Created: 13 Oct 2021, 4:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fanconi anemia, complementation group R, OMIM:617244

Publications

Created: 13 Oct 2021, 4:02 p.m.

Panel version: 1.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anemia, complementation group R, OMIM:617244
OMIM
179617
Clinvar variants
Variants in RAD51
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_rating was removed from gene: RAD51.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to RAD51. Source NHS GMS was added to RAD51. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rad51 has been classified as Amber List (Moderate Evidence).

13 Oct 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: RAD51 was added gene: RAD51 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Literature Q4_21_rating tags were added to gene: RAD51. Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 26681308; 26253028; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244 Review for gene: RAD51 was set to GREEN