SPART Chromosome 13

Spartin

36 variants 36 Health Risk

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What This Gene Does

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

Associated Conditions (14)

Troyer syndrome

Hereditary spastic paraplegia

SPART-related disorder

Inborn genetic diseases

Gastric cancer

Thyroid cancer

nonmedullary

Hepatocellular carcinoma

Lung cancer

Cervical cancer

Ovarian serous cystadenocarcinoma

Neurodevelopmental delay

6 conditions

Key Variants

RS1399213398

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

RS140222511

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

RS142482393

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

RS146398746

Conflicting classifications of pathogenicity

Troyer syndrome, Hereditary spastic paraplegia, SPART-related disorder

Health Risk

RS148399669

Conflicting classifications of pathogenicity

Troyer syndrome, Hereditary spastic paraplegia, Troyer syndrome

Health Risk

RS148672324

Conflicting classifications of pathogenicity

Troyer syndrome, Inborn genetic diseases, Troyer syndrome

Health Risk

RS148833652

Conflicting classifications of pathogenicity

Troyer syndrome, Hereditary spastic paraplegia, Inborn genetic diseases

Health Risk

RS149393698

Conflicting classifications of pathogenicity

Troyer syndrome, Hereditary spastic paraplegia, SPART-related disorder

Health Risk

RS149730980

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

RS192704075

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

RS368305530

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia, Inborn genetic diseases, Ovarian serous cystadenocarcinoma

Health Risk

RS370385005

Conflicting classifications of pathogenicity

Troyer syndrome, Troyer syndrome

Health Risk

All Variants (36)

RSID	Category	Clinical Significance	Conditions
RS1399213398	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS140222511	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS142482393	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS146398746	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Hereditary spastic paraplegia, SPART-related disorder
RS148399669	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Hereditary spastic paraplegia, Troyer syndrome
RS148672324	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Inborn genetic diseases, Troyer syndrome
RS148833652	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Hereditary spastic paraplegia, Inborn genetic diseases
RS149393698	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Hereditary spastic paraplegia, SPART-related disorder
RS149730980	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS192704075	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS368305530	Health Risk	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia, Inborn genetic diseases, Ovarian serous cystadenocarcinoma
RS370385005	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS567106287	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS571222120	Health Risk	Conflicting classifications of pathogenicity	Troyer syndrome, Troyer syndrome
RS750885553	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS769573100	Health Risk	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1555263116	Health Risk	Likely pathogenic	—
RS2137548453	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2137548824	Health Risk	Likely pathogenic	Troyer syndrome, Troyer syndrome
RS2500723740	Health Risk	Likely pathogenic	—
RS771101723	Health Risk	Likely pathogenic	Troyer syndrome, Troyer syndrome
RS779688963	Health Risk	Likely pathogenic	—
RS1060499524	Health Risk	Pathogenic	Troyer syndrome, SPART-related disorder, Troyer syndrome
RS1233117382	Health Risk	Pathogenic	—
RS1480709252	Health Risk	Pathogenic	—
RS1883463670	Health Risk	Pathogenic	—
RS200373703	Health Risk	Pathogenic	Neurodevelopmental delay, Troyer syndrome, Neurodevelopmental delay
RS2137335988	Health Risk	Pathogenic	Troyer syndrome, Troyer syndrome
RS2137515973	Health Risk	Pathogenic	Troyer syndrome, Troyer syndrome
RS730882198	Health Risk	Pathogenic	6 conditions, Troyer syndrome, 6 conditions
RS745516122	Health Risk	Pathogenic	—
RS748835312	Health Risk	Pathogenic	—
RS775736341	Health Risk	Pathogenic	Troyer syndrome, Inborn genetic diseases, Neurodevelopmental delay
RS777288668	Health Risk	Pathogenic	Troyer syndrome, Troyer syndrome
RS748865622	Health Risk	Pathogenic/Likely pathogenic	SPART-related disorder, SPART-related disorder
RS770560051	Health Risk	Pathogenic/Likely pathogenic	Troyer syndrome, Troyer syndrome