Severe microcephaly

Gene: RMI1

Amber List (moderate evidence)

RMI1 (RecQ mediated genome instability 1)
EnsemblGeneIds (GRCh38): ENSG00000178966
EnsemblGeneIds (GRCh37): ENSG00000178966
OMIM: 610404, Gene2Phenotype
RMI1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Amber
Created: 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)

I don't know

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
watchlist
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