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  3. RAD50
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Growth failure

Gene: RAD50

Green List (high evidence)
RAD50 (RAD50 double strand break repair protein)
EnsemblGeneIds (GRCh38): ENSG00000113522
EnsemblGeneIds (GRCh37): ENSG00000113522
OMIM: 604040, Gene2Phenotype
RAD50 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, short stature is a key feature.
Sources: Expert Review
Created: 20 Aug 2021, 7:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118

Publications

Created: 20 Aug 2021, 7:31 a.m.

Panel version: 0.277

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nijmegen breakage syndrome-like disorder, MIM# 613078
  • MONDO:0013118
OMIM
604040
Clinvar variants
Variants in RAD50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad50 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: rad50 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: RAD50 was added gene: RAD50 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to 19409520; 32212377; 33378670 Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118 Review for gene: RAD50 was set to GREEN