Severe microcephaly
Gene: RMI1
RMI1 (RecQ mediated genome instability 1)
EnsemblGeneIds (GRCh38): ENSG00000178966
EnsemblGeneIds (GRCh37): ENSG00000178966
OMIM: 610404, Gene2Phenotype
RMI1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000178966
EnsemblGeneIds (GRCh37): ENSG00000178966
OMIM: 610404, Gene2Phenotype
RMI1 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Sarah Leigh (Genomics England Curator)
Not associated with phenotype in OMIM or in Gen2Phen. A biallelic truncating variant identified in two cousins from a consanguineous Turkish family, with microcephalic dwarfism, similar to carries of TOP3A variants in the same publication (PMID 30057030).Created: 28 Aug 2018, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bloom Syndrome-like Disorder
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Literature
- Phenotypes
-
- Bloom Syndrome-like Disorder
- Tags
- OMIM
- 610404
- Clinvar variants
- Variants in RMI1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RMI1.
28 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: rmi1 has been classified as Amber List (Moderate Evidence).
28 Aug 2018, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)RMI1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum panel. Sources: Literature
28 Aug 2018, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)RMI1 was created by Sarah Leigh