RTTN Chromosome 18

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101 variants 101 Health Risk

Upload your DNA to see your personal genotypes for variants in RTTN.

What This Gene Does

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

Gene Info

Gene Group

Armadillo like helical domain containing

Locus Type

gene with protein product

Location

18q22.2

Ensembl

ENSG00000176225

Associated Conditions (8)

RTTN-related disorder

Inborn genetic diseases

Microcephalic primordial dwarfism due to RTTN deficiency

Microcephaly

Primary microcephaly

MICROCEPHALY

SHORT STATURE

AND POLYMICROGYRIA WITH SEIZURES

Key Variants

RS112327299

Conflicting classifications of pathogenicity

Health Risk

RS113536228

Conflicting classifications of pathogenicity

Health Risk

RS117774280

Conflicting classifications of pathogenicity

Health Risk

RS142016609

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1421920938

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS143471549

Conflicting classifications of pathogenicity

Inborn genetic diseases, RTTN-related disorder, Inborn genetic diseases

Health Risk

RS145832674

Conflicting classifications of pathogenicity

Inborn genetic diseases, RTTN-related disorder, Inborn genetic diseases

Health Risk

RS147728279

Conflicting classifications of pathogenicity

Microcephalic primordial dwarfism due to RTTN deficiency, Inborn genetic diseases, Microcephalic primordial dwarfism due to RTTN deficiency

Health Risk

RS149233888

Conflicting classifications of pathogenicity

Health Risk

RS199575994

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS199597732

Conflicting classifications of pathogenicity

Health Risk

RS200600259

Conflicting classifications of pathogenicity

Health Risk

All Variants (101)

RSID	Category	Clinical Significance	Conditions
RS2513091106	Health Risk	Likely pathogenic	—
RS373987090	Health Risk	Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS374274442	Health Risk	Likely pathogenic	—
RS377480200	Health Risk	Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS751679113	Health Risk	Likely pathogenic	—
RS756096769	Health Risk	Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS775277800	Health Risk	Likely pathogenic	Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency, Primary microcephaly
RS776321170	Health Risk	Likely pathogenic	—
RS780270096	Health Risk	Likely pathogenic	Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency, Primary microcephaly
RS797044691	Health Risk	Likely pathogenic	—
RS864321621	Health Risk	Likely pathogenic	Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency, Primary microcephaly
RS886039611	Health Risk	Likely pathogenic	—
RS932327641	Health Risk	Likely pathogenic	—
RS1256028809	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1280580731	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1301097050	Health Risk	Pathogenic	—
RS1369882657	Health Risk	Pathogenic	—
RS1451563103	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1555704436	Health Risk	Pathogenic	—
RS1599716037	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS199700128	Health Risk	Pathogenic	—
RS2059899625	Health Risk	Pathogenic	—
RS2061066554	Health Risk	Pathogenic	—
RS2145501058	Health Risk	Pathogenic	—
RS2145613736	Health Risk	Pathogenic	—
RS2145924056	Health Risk	Pathogenic	—
RS2146092980	Health Risk	Pathogenic	—
RS2511867200	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS2512026335	Health Risk	Pathogenic	—
RS2512026606	Health Risk	Pathogenic	—
RS2512085619	Health Risk	Pathogenic	—
RS2512602579	Health Risk	Pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS318240757	Health Risk	Pathogenic	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
RS375510822	Health Risk	Pathogenic	—
RS746502408	Health Risk	Pathogenic	—
RS759249497	Health Risk	Pathogenic	—
RS759737641	Health Risk	Pathogenic	—
RS771001575	Health Risk	Pathogenic	—
RS775796646	Health Risk	Pathogenic	—
RS779516131	Health Risk	Pathogenic	Microcephaly, Microcephaly
RS886041460	Health Risk	Pathogenic	—
RS888852861	Health Risk	Pathogenic	—
RS991404661	Health Risk	Pathogenic	—
RS1131691284	Health Risk	Pathogenic/Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1195644432	Health Risk	Pathogenic/Likely pathogenic	RTTN-related disorder, RTTN-related disorder
RS1555707336	Health Risk	Pathogenic/Likely pathogenic	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
RS200495808	Health Risk	Pathogenic/Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS374356518	Health Risk	Pathogenic/Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS752150024	Health Risk	Pathogenic/Likely pathogenic	—
RS766635681	Health Risk	Pathogenic/Likely pathogenic	Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency

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