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Intellectual disability

Gene: RTN4IP1

Green List (high evidence)

RTN4IP1 (reticulon 4 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 9 panels

3 reviews

Helen Brittain (Genomics England Curator)

I don't know

2 unrelated families, however only 1 of these had ID (and consanguinous) therefore unclear re causation. Further evidence needed.
Created: 31 Oct 2017, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 10, with or without ataxia, mental retardation, and seizures

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 8:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Added publications to support upgrading of the gene to Green. Sufficient cases with an early onset developmental / ID phenotype (PMID: 29181510; 26593267)
Created: 16 Jul 2018, 10:04 a.m.
Comment on publications: Added publications to support upgrading of the gene to Green
Created: 16 Jul 2018, 10:01 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:52 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Optic atrophy 10, with or without ataxia, mental retardation, and seizures
OMIM
610502
Clinvar variants
Variants in RTN4IP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rtn4ip1 has been classified as Green List (High Evidence).

16 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RTN4IP1 were set to 5529582; 29181510; 26593267

12 Mar 2018, Gel status: 2

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.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

RTN4IP1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

RTN4IP1 was created by BRIDGE