Pontocerebellar hypoplasia type 2D

OMIM:613811
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	PCCA
Reference transcript	NM_001178004.1
DNA Change	c.2084A>G
A.A. Change	p.Gln695Arg
Exon/Intron	3' of the stop codon
Mutation Type	substitution
Reference	Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS.VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 Feb 27. [Epub ahead of print]

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Gene Symbol	PCCA
Reference transcript	NM_001178004.1
DNA Change	c.1556+5G>A
A.A. Change
Exon/Intron	intron
Mutation Type	substitution
Reference	Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS.VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 Feb 27. [Epub ahead of print]

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Gene Symbol	SEPSECS
Reference transcript	NM_016955.3
DNA Change	c.715G>A
A.A. Change	p.Ala239Thr
Exon/Intron	exon 6
Mutation Type	substitution
Reference	Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44.

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Gene Symbol	SEPSECS
Reference transcript	NM_016955.3
DNA Change	c.1001A>G
A.A. Change	p.Tyr334Cys
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44.

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