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Intellectual disability

Gene: RAD50

Red List (low evidence)

RAD50 (RAD50 double strand break repair protein)
EnsemblGeneIds (GRCh38): ENSG00000113522
EnsemblGeneIds (GRCh37): ENSG00000113522
OMIM: 604040, Gene2Phenotype
RAD50 is in 3 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Note uncertainty regarding ID in the first patient - PMID:1887849 states 'lack of mental retardation', while a later report PMID:19409520 describes 'mild to moderate retardation of psychomotor development'. ID was borderline in the second patient (at age 15 estimated IQ: 85).

Therefore, keeping rating Red awaiting further cases to clarify the relevance of ID to the phenotype associated with RAD50 variants.
Created: 21 Sep 2020, 3:01 p.m. | Last Modified: 21 Sep 2020, 3:34 p.m.
Panel Version: 3.330

Zornitza Stark (Australian Genomics)

I don't know

Second individual reported. Degree of ID unclear, probably in mild to moderate range.
Created: 8 Sep 2020, 10:53 p.m. | Last Modified: 8 Sep 2020, 10:53 p.m.
Panel Version: 3.295

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome-like disorder, MIM# 613078

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Currently only one case described in the iterature with Nijmegen breakage syndrome-like disorder, noted with normal mental function (subsequent confusion in publications between retardation of psychomotor development and mental retardation)
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome-like disorder,613078; NBSLD

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nijmegen breakage syndrome-like disorder, 613078
OMIM
604040
Clinvar variants
Variants in RAD50
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Sep 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder,613078; NBSLD to Nijmegen breakage syndrome-like disorder, 613078

21 Sep 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RAD50 were set to 1887849; 19409520

21 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rad50 has been classified as Red List (Low Evidence).

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene RAD50 was set to ['1887849', '19409520']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RAD50 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAD50 was added to Intellectual disabilitypanel. Sources: Expert Review Red