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Genetic epilepsy syndromes

Gene: RTTN

Green List (high evidence)

RTTN (rotatin)
EnsemblGeneIds (GRCh38): ENSG00000176225
EnsemblGeneIds (GRCh37): ENSG00000176225
OMIM: 610436, Gene2Phenotype
RTTN is in 7 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR microcephaly, short stature and polymicroyria with seizures. Kheradmand Kia et al, 2012 - consng Turkish family 2 sibs and another family member who had seizures as part of their phenotype - hom RTTN missense variant. Also an unrelated boy with seizures - hom for a diff missense variant. Gene expression profiling done on both variants. Shamseldin et al, 2015 - 3 unrelated families none of whom had seizures but had other features of disease - all had hom or compound het variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly short stature and polymicrogyria with seizures, 614833

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Note additional report of a patient with seizures. Bi-allelic variants cause a complex brain development disorder, and seizures are part of the phenotype in a reasonable number of reported patients.
Created: 20 Aug 2018, 12:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

I don't know

Comment when marking as ready: Green rating based on previous evidence and report of an additional case displaying seizures in PMID 29967526.
Created: 26 Sep 2018, 2:01 p.m.
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 6 variants reported 5 families. Seizures were only reported in 2 families.
Created: 10 Apr 2018, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
OMIM
610436
Clinvar variants
Variants in RTTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RTTN.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RTTN.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RTTN were set to 26608784

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to RTTN. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source, Set publications

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RTTN. Panel: Genetic Epilepsy Syndromes Publications for gene RTTN was set to ['26608784']

10 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RTTN was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RTTN was created by Sarah Leigh