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Intellectual disability

Gene: RNF168

Red List (low evidence)

RNF168 (ring finger protein 168)
EnsemblGeneIds (GRCh38): ENSG00000163961
EnsemblGeneIds (GRCh37): ENSG00000163961
OMIM: 612688, Gene2Phenotype
RNF168 is in 6 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Possible disease gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) for RIDDLE syndrome. Only two unrelated patients have been reported with RIDDLE syndrome and learning difficulties only observed in 1 patient.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RIDDLE syndrome, 611943; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RIDDLE SYNDROME

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • RIDDLE syndrome, 611943
  • Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
OMIM
612688
Clinvar variants
Variants in RNF168
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene RNF168 was set to ['21394101', '17940005']

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

Added New Source

Ellen McDonagh (Genomics England Curator)

RNF168 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RNF168 was created by ellenmcdonagh