DisGeNET - a database of gene-disease associations

Wiedemann-Rautenstrauch syndrome, C0406586

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1399429058

POLR3A

0.800

GeneticVariation

UNIPROT

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

30450527

2018

dbSNP:

rs1399429058

POLR3A

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs1399429058

POLR3A

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs757209071

POLR3A

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs757209071

POLR3A

0.800

GeneticVariation

UNIPROT

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

30450527

2018

dbSNP:

rs757209071

POLR3A

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs768222183

POLR3A

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs768222183

POLR3A

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs768222183

POLR3A

0.800

GeneticVariation

UNIPROT

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

30450527

2018

dbSNP:

rs778985686

POLR3A

0.800

GeneticVariation

UNIPROT

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

30414627

2018

dbSNP:

rs778985686

POLR3A

0.800

GeneticVariation

UNIPROT

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

30450527

2018

dbSNP:

rs778985686

POLR3A

0.800

GeneticVariation

UNIPROT

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

30323018

2018

dbSNP:

rs1399429058

POLR3A

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs757209071

POLR3A

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs768222183

POLR3A

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs778985686

POLR3A

0.800

GeneticVariation

UNIPROT

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

27612211

2016

dbSNP:

rs138305578

POLR3A

0.800

GeneticVariation

CLINVAR

dbSNP:

rs138305578

POLR3A

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1399429058

POLR3A

0.800

GeneticVariation

CLINVAR

dbSNP:

rs757209071

POLR3A

0.800

GeneticVariation

CLINVAR

dbSNP:

rs768222183

POLR3A

0.800

CausalMutation

CLINVAR

dbSNP:

rs768222183

POLR3A

0.800

GeneticVariation

CLINVAR

dbSNP:

rs778985686

POLR3A

0.800

CausalMutation

CLINVAR

dbSNP:

rs778985686

POLR3A

0.800

GeneticVariation

CLINVAR

dbSNP:

rs148932047

POLR3A

0.710

GeneticVariation

BEFREE

Here we report an infant with the characteristic phenotypic features of Wiedemann-Rautenstrauch syndrome in whom exome sequencing identified two pathogenic variants in POLR3A: c.1909+18G>A; p.(Y637Cfs*23) and c.2617C>T; p.(R873*).

27612211

2016