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Prepair 1000+

Gene: RTTN

Green List (high evidence)
RTTN (rotatin)
EnsemblGeneIds (GRCh38): ENSG00000176225
EnsemblGeneIds (GRCh37): ENSG00000176225
OMIM: 610436, Gene2Phenotype
RTTN is in 10 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.

HGNC approved symbol/name: RTTN
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Created: 4 Feb 2025, 3:45 a.m. | Last Modified: 4 Feb 2025, 3:45 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Feb 2025, 3:45 a.m.
Last Modified: 4 Feb 2025, 3:45 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
OMIM
610436
Clinvar variants
Variants in RTTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RTTN were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RTTN was added gene: RTTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)