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  3. RMI2
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Chromosome Breakage Disorders

Gene: RMI2

Amber List (moderate evidence)
RMI2 (RecQ mediated genome instability 2)
EnsemblGeneIds (GRCh38): ENSG00000175643
EnsemblGeneIds (GRCh37): ENSG00000175643
OMIM: 612426, Gene2Phenotype
RMI2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

A pair of siblings and functional data, good biological candidate.
Created: 23 Apr 2021, 11:19 a.m. | Last Modified: 23 Apr 2021, 11:19 a.m.
Panel Version: 0.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bloom-like syndrome

Publications

Created: 23 Apr 2021, 11:19 a.m.
Last Modified: 23 Apr 2021, 11:19 a.m.
Panel version: 0.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom-like syndrome
OMIM
612426
Clinvar variants
Variants in RMI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rmi2 has been classified as Amber List (Moderate Evidence).

23 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RMI2 were changed from to Bloom-like syndrome

23 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RMI2 were set to

23 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rmi2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RMI2 was added gene: RMI2 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RMI2 was set to Unknown