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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Spastic paraplegia 15, autosomal recessive

OMIM: 270700
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

ZFYVE26 || c.1477C>T

Gene/Locus:	ZFYVE26
Dna Change:	c.1477C>T
Protein Change:	p.Gln493X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 10
Transcript:	NM_015346.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	2 families/4 families	NA	Boukhris A et al., 2009Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C, . Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.. Clin. Genet.. 2009; 75(6):527-36

References

Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C, Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.Clin. Genet.. 2009; 75(6):527-36

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Spastic paraplegia 15, autosomal recessive

References