Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: RLIM

Green List (high evidence)

RLIM (ring finger protein, LIM domain interacting)
EnsemblGeneIds (GRCh38): ENSG00000131263
EnsemblGeneIds (GRCh37): ENSG00000131263
OMIM: 300379, Gene2Phenotype
RLIM is in 4 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Louise Daugherty's review; intellectual disability is the predominant feature in described cases. Include.
Created: 21 Dec 2017, 2:08 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As a result of watchlist tag audit the watchlist tag was removed from RLIM- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 4:10 p.m. | Last Modified: 13 Jan 2020, 4:10 p.m.
Panel Version: 3.0
Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) with the attributed disease intellectual disability. More than 3 unrelated cases with ID and segregated with the disorder in the families described (PMID: 25644381;25735484).
Created: 5 Jan 2018, 2:42 p.m.
added missense tag, only missense variants have been reported in OMIM to date
Created: 5 Dec 2017, 12:05 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 61, 300978; Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked 61, 300978
  • Intellectual disability
Tags
missense
OMIM
300379
Clinvar variants
Variants in RLIM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: RLIM.

12 Mar 2018, Gel status: 4

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.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to RLIM. Panel: Intellectual disability Model of inheritance for gene RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene RLIM was set to ['25644381', '25735484', '19945382']

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)

RLIM was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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