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  3. RTTN
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Malformations of cortical development

Gene: RTTN

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in four families. Probably DD on G2P
Created: 19 Dec 2016, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833

Publications

Created: 19 Dec 2016, 12:12 p.m.

Panel version: 1.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
OMIM
610436
Clinvar variants
Variants in RTTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

RTTN was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RTTN was created by agardham