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Intellectual disability

Gene: RTTN

Green List (high evidence)

RTTN (rotatin)
EnsemblGeneIds (GRCh38): ENSG00000176225
EnsemblGeneIds (GRCh37): ENSG00000176225
OMIM: 610436, Gene2Phenotype
RTTN is in 8 panels

6 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Louise Daughterty's review; ID of moderate - severe level is reported. Appropriate phenotype for inclusion.
Created: 21 Dec 2017, 2:20 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Probable DD-G2P loss of function gene. However, recent pblicaitons extends the evidence to support the gene status as Green on the ID panel.There are four unrelated families reported to date with with polymicrogyria with seizures (including Mental retardation ranging from moderate to severe ). One large consanguineous Turkish family there are 3 members (Kheradmand Kia et al. 2012, PMID: 22939636) and three unrelated families (Shamseldin et al. 2015, PMID: 26608784)
Created: 5 Jan 2018, 2:42 p.m.
Comment on phenotypes: updated phenotypes
Created: 27 Nov 2017, 5:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, 614833; Intellectual disability

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BILATERAL DIFFUSE POLYMICROGYRIA

Publications

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_201507;in_ddg2p_2_4_2017;in_omim_20150205_epilepsies . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 8:18 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_201507; omim_20150205_epilepsies; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Three families reported to date. Need further data before diagnostic grade
Created: 8 Feb 2016, 12:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures, 614833
  • Intellectual disability
OMIM
610436
Clinvar variants
Variants in RTTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RTTN.

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 publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to RTTN. Panel: Intellectual disability Publications for gene RTTN was set to ['26846091', ' 26608784', '22939636']

27 Nov 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, 614833; MSSP; BILATERAL DIFFUSE POLYMICROGYRIA, PMGYS

27 Nov 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, 614833; MSSP; BILATERAL DIFFUSE POLYMICROGYRIA, PMGYS

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

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)

RTTN was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RTTN was added to Intellectual disabilitypanel. Sources: Expert Review Amber